JIMD Reports - Volume 12

Front Matter....Pages i-vi
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases....Pages 1-4
Chronic Kidney Disease in an Adult with Propionic Acidemia....Pages 5-10
Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome....Pages 11-15
Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation....Pages 17-23
Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes....Pages 25-29
Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome....Pages 31-35
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment....Pages 37-45
Pulmonary Manifestations in a Patient with Transaldolase Deficiency....Pages 47-50
Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility....Pages 51-63
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency....Pages 65-69
Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts....Pages 71-77
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation....Pages 79-84
Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria....Pages 85-89
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase ( GALT ) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha ( IL11RA ) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities....Pages 91-98
Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease....Pages 99-102
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability....Pages 103-107
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation....Pages 109-114
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3 ....Pages 115-120
Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency....Pages 121-127
Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome....Pages 129-134