JIMD Reports, Volume 15

Front Matter....Pages i-vi
4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3....Pages 1-6
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood....Pages 7-12
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment....Pages 13-27
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes....Pages 29-37
Report of Two Never Treated Adult Sisters with Aromatic l -Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?....Pages 39-45
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations....Pages 47-57
Mortality in Patients with Morquio Syndrome A....Pages 59-66
Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease....Pages 67-70
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy....Pages 71-78
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead....Pages 79-93
Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations....Pages 95-104
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme ® ) to Agalsidase Alfa (Replagal ® )....Pages 105-111
Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy....Pages 113-116
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood....Pages 117-121
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis....Pages 123-132
Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead....Pages 133-133