Molecular Genetics and Metabolism
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Publication Venue For
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Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy.
2018
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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation..
123:92-96.
2018
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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy..
123:85-91.
2018
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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease..
122:189-197.
2017
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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant..
122:99-107.
2017
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Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia..
122:95-98.
2017
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High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient..
122:76-79.
2017
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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa..
122:4-17.
2017
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Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up..
121:127-137.
2017
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The emerging phenotype of late-onset Pompe disease: A systematic literature review..
120:163-172.
2017
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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation..
120:96-100.
2017
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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative..
119:75-82.
2016
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Physical therapy management of infants and children with hypophosphatasia..
119:14-19.
2016
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Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry..
119:151-159.
2016
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New observation of sialuria prompts detection of liver tumor in previously reported patient.
118:92-99.
2016
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New observation of sialuria prompts detection of liver tumor in previously reported patient..
118:92-99.
2016
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Salmeterol enhances the cardiac response to gene therapy in Pompe disease..
118:35-40.
2016
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A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease..
117:114-119.
2016
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Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction..
117:66-83.
2016
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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States..
117:95-103.
2016
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Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining..
117:120-128.
2016
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Characterization of gait in late onset Pompe disease..
116:152-156.
2015
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Successful combined liver/kidney transplantation from a donor with Pompe disease..
115:141-144.
2015
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A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses..
114:123-128.
2015
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Liver transplantation for pediatric metabolic disease..
111:418-427.
2014
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Mouse model of glycogen storage disease type III.
111:467-476.
2014
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Mouse model of glycogen storage disease type III..
111:467-476.
2014
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Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
111:309-313.
2014
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Liver transplantation for pediatric metabolic disease.
111:418-427.
2014
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Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
113:84-91.
2014
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Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS..
110:237-240.
2013
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The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia..
110:275-280.
2013
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Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation..
109:312-314.
2013
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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency..
109:215-217.
2013
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Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics..
109:218-220.
2013
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Chronic myopathy due to immunoglobulin light chain amyloidosis..
108:249-254.
2013
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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
109:215-217.
2013
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Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention.
108:142-144.
2013
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Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.
109:161-170.
2013
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Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
109:218-220.
2013
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Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
109:312-314.
2013
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The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
110:275-280.
2013
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Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials..
107:335-344.
2012
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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa..
107:456-461.
2012
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Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature..
106:462-469.
2012
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Life with too much polyprenol: polyprenol reductase deficiency..
105:642-651.
2012
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A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots..
105:519-521.
2012
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An exploratory study of brain function and structure in mucopolysaccharidosis type I: Long term observations following hematopoietic cell transplantation (HCT).
107:116-121.
2012
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To the Editor.
107:244-.
2012
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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up..
104:48-60.
2011
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Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle..
103:107-112.
2011
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Pompe disease: design, methodology, and early findings from the Pompe Registry..
103:1-11.
2011
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Research challenges in central nervous system manifestations of inborn errors of metabolism..
102:326-338.
2011
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Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI..
102:111-115.
2011
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Erratum to "Pompe disease: Design, methodology, and early findings from the Pompe Registry" [Mol. Genet. Metabol. 103 (2011) 1-11].
104:424-.
2011
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Hypovitaminosis D in glycogen storage disease type I..
99:434-437.
2010
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Mechanism of shortened bones in mucopolysaccharidosis VII..
97:202-211.
2009
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115. Immune-modulation therapy in a CRIM negative Pompe disease patient blocks antibody formation towards Myozyme, reverses cardiomyopathy, and prolongs survival.
96:S37-S37.
2009
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77. Cross-reacting immunologic material status affects outcomes in infants with Pompe disease treated with alglucosidase alfa.
96:S28-S29.
2009
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DTI with quantitative tractography as a marker of disease progression in newborns with Krabbe disease.
96:S23-S24.
2009
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INFLUENCE OF CROSS-REACTING IMMUNOLOGIC MATERIAL STATUS ON TREATMENT OUTCOMES IN INFANTILE POMPE PATIENTS TREATED WITH RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE.
98:59-59.
2009
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LIFE EXPECTANCY AND CAUSE OF DEATH IN MALES AND FEMALES WITH FABRY DISEASE: FINDINGS FROM THE FABRY REGISTRY.
98:59-59.
2009
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LONG-TERM SURVIVAL AND CORRECTION OF BIOCHEMICAL ABNORMALITIES FOLLOWING GENE THERAPY IN DOGS WITH GLYCOGEN STORAGE DISEASE TYPE 1A.
98:45-45.
2009
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PROGRESS IN THE DEVELOPMENT OF RAAV2/8 VECTOR-MEDIATED, LIVER-DIRECTED GENE THERAPY FOR PHENYLKETONURIA (PKU).
98:37-37.
2009
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SULFITE OXIDASE AND MOLYBDENUM COFACTOR DEFICIENCIES: CLINICAL EXPERIENCE OF A DIAGNOSTIC LABORATORY AND LITERATURE REVIEW.
98:139-139.
2009
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UTILITY OF A URINARY TETRASACCHARIDE AS A BIOMARKER FOR GLYCOGEN STORAGE DISEASE TYPE III.
98:39-39.
2009
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A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency..
93:363-370.
2008
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting..
93:275-281.
2008
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Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots..
90:449-452.
2007
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Erratum to "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots" [Mol. Genet. Metab. 90 (2007) 449-452] (DOI:10.1016/j.ymgme.2006.12.006).
92:285-.
2007
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Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina..
88:90-92.
2006
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Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease..
85:247-254.
2005
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Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene..
83:312-321.
2004
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Increased expression of anti-apoptosis genes in peripheral blood cells from patients with paroxysmal nocturnal hemoglobinuria..
78:291-294.
2003
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Developmental stage-specific expression of the alpha and beta subunits of the HIF-1 protein in the mouse and human fetus..
75:244-249.
2002
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Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues..
74:322-331.
2001
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Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI..
71:212-224.
2000
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Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease..
69:16-23.
2000
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A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene..
67:74-82.
1999
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CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide..
66:294-308.
1999
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Plasma glutathione peroxidase and its relationship to renal proximal tubule function..
65:238-245.
1998
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A FIRST REPORT OF CHOLANGIOCARCINOMA IN GSD I
2018
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BEZAFIBRATE TREATMENT ENHANCES EFFICIENCY OF AAV GENE THERAPY ON GLYCOGEN STORAGE DISEASE TYPE IA
2018
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CLINICAL COURSE AND OUTCOME IN ADULTS WITH PROPIONIC ACIDEMIA: CASE SERIES
2018
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OVERVIEW OF NUCLEIC ACID THERAPIES
2018
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A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA ) variants and HLA-type
2018
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An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease
2018
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Cognition and brain involvement in infantile Pompe disease
2018
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Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT
2018
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Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)
2018
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First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease
2018
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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant
2018
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Lingual pathophysiology in late-onset Pompe disease
2018
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Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease
2018
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Respiratory muscle training in Pompe disease
2018
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Survey of quality of life, phenotypic expression and response to treatment in patients with Krabbe leukodystrophy
2018
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The patient and clinician point of view: living with late-onset Pompe disease
2018
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A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>/;G IVS splice site mutation
2017
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Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease
2017
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Characteristics of 27 patients with type 3 Gaucher disease: a descriptive analysis from the Gaucher Outcome Survey
2017
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Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation
2017
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Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease
2017
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Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry
2017
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Late-onset Pompe disease with atypical presentation: What else is going on?
2017
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Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease
2017
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PRKAG2 as a mimicker of Pompe disease
2017
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Respiratory muscle training in late-onset Pompe disease
2017
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Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry
2017
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Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry
2017
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DIABETES MELLITUS AND GLYCOGEN STORAGE DISEASE TYPE 1A IN AN ADULT FEMALE: A CASE STUDY
2016
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IDENTIFICATION OF MODIFIER GENES OF POMPE DISEASE PHENOTYPE BY VARIANT ANALYSIS OF WHOLE EXOME SEQUENCING DATA
2016
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INFUSION-ASSOCIATED REACTIONS AND IMMUNOGENICITY IN THE ADVANCE STUDY OF ALGLUCOSIDASE ALFA PRODUCED AT 4000 L SCALE IN PATIENTS WITH POMPE DISEASE
2016
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SMALL FIBER NEUROPATHY IN A COHORT OF PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III
2016
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52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study
2016
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Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease
2016
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Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy
2016
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Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapy
2016
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Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher disease
2016
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Enzyme replacement therapy rate escalation in infantile onset Pompe disease
2016
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Identification of modifier genes of Pompe disease phenotype by variant analysis of whole exome sequencing data
2016
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Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy
2016
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Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen
2016
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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy
2016
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New perspectives for ERT in Pompe disease: Extending the action of the enzyme to cytosolic targets
2016
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Platelet response to enzyme replacement therapy and oral substrate reduction therapy in an adult with Gaucher disease
2016
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Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy
2016
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Three cases of familial pseudodominance in Pompe disease: Are current practices missing diagnostic and treatment opportunities?
2016
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A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing
2015
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A hypophosphatasia case series: Odontohypophosphatasia or childhood/adult form?
2015
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BIOENGINEERED HUMAN MUSCLE FOR PHYSIOLOGICAL STUDIES AND DISEASE MODELING
2015
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Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening
2015
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Zinc finger nuclease-induced targeted integration of a glucose-6-phosphatase gene promotes survival in mice with glycogen storage disease type-IA
2015
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Avascular necrosis in neuronopathic Gaucher despite high-dose enzyme replacement therapy
2015
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Characterization of gait in late onset Pompe disease
2015
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Consideration of increased dosing of alglucosidase alfa to achieve improved clinical outcomes in infantile Pompe disease
2015
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Dietary intake of individuals with late onset Pompe disease: A review and comparison to current diet recommendations
2015
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Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting
2015
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Further expanding the phenotype of treated infantile onset Pompe disease
2015
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Prophylactic immume modulation in infantile Pompe disease: Collective experience treating CRIM-positive and negative patients in the naive setting
2015
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Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease
2015
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Risk factors for severe clinical events and the incidence of these events in male and female patients with Fabry disease treated with agalsidase beta
2015
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The Pompe Registry: 10years of data
2015
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COMBINED D-2 AND L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING WITH FACIAL DYSMORPHISM AND MULTIPLE MALFORMATIONS
2014
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OPTIMIZING METABOLIC CONTROL OF GLYCOGEN STORAGE DISEASE TYPE 3 (GSD3): POTENTIAL ROLE FOR MEDIUM CHAIN TRIGLYCERIDES (MCT)
2014
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Expanding our understanding of incontinence and lower urinary tract symptoms in adults with Pompe disease
2014
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Outcome of pregnancy in Pompe disease with and without enzyme replacement therapy
2014
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Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression
2014
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Quantitative whole-body muscle MRI, clinical muscle group weakness, and muscle-map correlation in adult patients with Pompe disease
2014
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Small fiber neuropathy in late-onset Pompe disease: a case report and prospective screening
2014
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Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
2014
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The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA
2014
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A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease
2013
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Characterization of differential tissue GAA content and CI-M6PR/IGF2R expression using autopsy material obtained from 2 patients with CRIM-negative infantile Pompe disease treated with ERT
2013
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The importance of targeting the central nervous system for treatment of respiratory insufficiency in Pompe disease
2013
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A canine model of glycogen storage disease type III
2012
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Clinical challenges diagnosing an infant with hypertrophic cardiomyopathy
2012
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Hypophosphatasia: Enzyme replacement therapy (ENB-0040) decreases TNSALP substrate accumulation and improves functional outcome in affected adolescents and adults
2012
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Long term treatment of glycogen storage disease type IA: Clinical summary of a canine model
2012
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Outcomes of isolated liver and simultaneous liver-kidney transplantation in two patients with glycogen storage disease type lb
2012
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Rapamycin is a potential therapy for glycogen storage disease type III
2012
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Beta2 Agonists Enhance Efficacy of Enzyme Replacement Therapy in Murine Pompe Disease
2012
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Characteristics Associated with Delays in Diagnosis of Pompe Disease Among Patients Enrolled in the Pompe Registry
2012
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Immunological Challenges in Late-Onset Pompe Disease Treated with Enzyme Replacement Therapy
2012
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Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease
2012
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Methods of Diagnosis of Patients with Pompe Disease: Data From The Pompe Registry
2012
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Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience
2012
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Presenting Signs and Symptoms Among Patients with Pompe Disease Enrolled in the Pompe Registry
2012
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Two-Year Efficacy And Safety Of Velaglucerase Alfa In Patients With Type 1 Gaucher Disease Switching From Imiglucerase: Phase III Trial HGT-GCB-039 And Extension
2012
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Elevation of guanidinoacetate in the newborn blood spot of a patient with guanidinoacetate methyltransferase deficiency
2011
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Metabolic predictors of coagulation abnormalities in glycogen storage disease type 1
2011
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Monitoring urinary glucose tetrasaccharide biomarker in patients with infantile and late-onset Pompe disease identified through newborn screening
2011
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Novel application of bortezomib in abrogating antibodies against ERT in Pompe disease: A strategy for broad clinical application in diseases treated with therapeutic proteins
2011
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The emerging phenotype of long-term infantile Pompe survivors on enzyme replacement therapy
2011
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Why 5-methyltetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an "n-1-clinical trial"
2011
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Bortezomib: A solution to the challenge of antibodies in diseases treated with therapeutic proteins?
2011
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MPS I: Age at transplant is associated with better long-term developmental outcomes
2011
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MPS II: developmental outcomes after hematopoietic stem cell transplantation
2011
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Mannose-6-Phosphate receptor expression modulates efficacy from enzyme replacement therapy in Pompe disease
2011
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The clinical phenotype of Long-term infantile Pompe disease survivors
2011
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The effect of exercise on improving strength and function in a Pompe mouse model treated with AAV vector mediated gene therapy
2011
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The heterogeneity of pompe disease: Early data on genotype from the Pompe registry
2011
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The pompe registry: Baseline data from the first five years
2011
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BJORNSTAD SYNDROME IN A BOY WITH SENSORINEURAL HEARING LOSS, PILI TORTI, MENTAL RETARDATION, SEIZURES AND COMPLEX III DEFICIENCY
2010
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HIGHLY EFFICACIOUS GENE THERAPY IN THE CANINE MODEL FOR GLYCOGEN STORAGE DISEASE TYPE IA
2010
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SEVERE NEONATAL LACTIC ACIDOSIS IN A MALE INFANT WITH A PDH E1 ALPHA FRAME SHIFT MUTATION IN THE C-TERMINAL REGION: COULD WE PREDICT THE OUTCOME?
2010
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THE ROLE OF ANTI-rhGAA ANTIBODY TITERS AND CLINICAL OUTCOMES IN INFANTILE POMPE DISEASE PATIENTS
2010
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74. Immunological aspects of treatment of Pompe disease
2010
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75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry
2009
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76. CRIM responses in Pompe disease
2009
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BIOMARKER ANALYSIS FOR PYRIDOXINE DEPENDENT SEIZURES AND FOLINIC ACID RESPONSIVE SEIZURES
2009
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52. Effect of dose of enzyme replacement therapy with imiglucerase on bone crises in adolescents with Gaucher disease
2008
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53. The Pompe Registry: Centralized data collection to track the natural course of Pompe disease
2008
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66. Development of a disease severity scoring system for patients with Pompe disease
2008
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Long-term developmental follow-up of babies treated for infantile Krabbe disease with unrelated cord blood transplantation
2008
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Muscle-targeted gene therapy in glycogen storage disease type II with adeno-associated virus serotypes 7, 8, and 9
2008
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Diagnosing and treating Pompe disease, long term outcome and risk factors
2007
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Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance
2007
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Highly efficacious gene therapy in glycogen storage disease type Ia (GSD-Ia) with a double-stranded AAV vector.
2007
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Diagnostic value of urinary and plasma glucose tetrasaccharides in infantile and late onset glycogen storage disease type II.
2005
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Efficacy of an adeno-associated virus (AAV) vector administered to glycogen storage disease type Ia (GSD-Ia) mice at mid-infancy.
2005
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A comparison of mass spectrometry methods for the measurement of creatine and guanidinoacetate in plasma.
2004
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Elevated chitotriosidase activity in CSF in patients with GM1 and GM2 gangliosidosis: a surrogate marker of disease progression?
2004
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Elevated chitotriosidase activity in CSF in patients with tay-Sachs disease: a surrogate marker of disease progression?
2004