JIMD Reports - Case and Research Reports, 2012/5

Front Matter....Pages i-vii
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity....Pages 1-6
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE....Pages 7-10
A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine....Pages 11-15
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients....Pages 17-23
Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?....Pages 25-30
A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders....Pages 31-39
Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease....Pages 41-46
Inheritance of the m.3243A>G mutation....Pages 47-50
Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage....Pages 51-56
 cblE -Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period....Pages 57-62
Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs....Pages 63-72
Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease....Pages 73-80
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency....Pages 81-90
Fabry Disease in Latin America: Data from the Fabry Registry....Pages 91-99
Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT....Pages 101-108
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria....Pages 109-119
Neonatal Bone Marrow Transplantation in MPS IIIA Mice....Pages 121-132
Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency....Pages 133-137
Barriers to Transplantation in Adults with Inborn Errors of Metabolism....Pages 139-144
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 ....Pages 145-152