Jimd Reports
-
Publication Venue For
- Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study.. 62:74-84. 2021
- Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.. 58:37-43. 2021
- Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.. 57:94-101. 2021
- Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.. 47:47-54. 2019
- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.. 37:63-72. 2017
- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.. 31:79-83. 2017
- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.. 30:89-94. 2016
- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.. 28:59-67. 2016
- New cases of DHTKD1 mutations in patients with 2-ketoadipic aciduria. 25:15-19. 2016
- Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.. 20:5-10. 2015
- Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.. 15:67-70. 2015
- Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.. 23:45-54. 2015
- Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.. 14:29-35. 2014
- Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.. 15:1-11. 2014
- Cardiac Pathology in Glycogen Storage Disease Type III.. 6:65-72. 2012