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Publication Venue For
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Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia..
45:734-747.
2022
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A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net..
44:1124-1135.
2021
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MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines..
44:728-739.
2021
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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency..
44:178-192.
2021
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Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations..
43:770-777.
2020
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Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures..
43:549-557.
2020
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AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency..
42:870-877.
2019
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Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial..
42:424-437.
2019
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Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome..
42:480-493.
2019
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Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial..
42:534-544.
2019
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy..
42:353-361.
2019
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Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al..
41:913-914.
2018
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Role of continuous glucose monitoring in the management of glycogen storage disorders..
41:917-927.
2018
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Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds..
41:59-72.
2018
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PRKAG2 mutations presenting in infancy..
40:823-830.
2017
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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial..
40:831-843.
2017
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Large animal models and new therapies for glycogen storage disease..
38:505-509.
2015
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Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al..
37:141-143.
2014
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In search of proof-of-concept: gene therapy for glycogen storage disease type Ia..
35:671-678.
2012
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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder..
33 Suppl 3:S83-S90.
2010
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Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease..
32:303-308.
2009
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Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency..
30:819.
2007
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Glycogen storage disease types I and II: treatment updates..
30:159-164.
2007
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Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy..
30:2-4.
2007
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Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.
2018