JIMD Reports - Case and Research Reports, 2012/4

Front Matter....Pages i-vii
Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency....Pages 1-6
Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?....Pages 7-12
Hereditary Intrinsic Factor Deficiency in Chaldeans....Pages 13-18
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene....Pages 19-26
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency....Pages 27-29
Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease....Pages 31-37
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease....Pages 39-48
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer....Pages 49-54
The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I....Pages 55-58
Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome....Pages 59-62
Autism Spectrum Disorder in a Child with Propionic Acidemia....Pages 63-66
Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease....Pages 67-75
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype....Pages 77-79
In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography....Pages 81-88
A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)....Pages 89-98
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease....Pages 99-102
High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase....Pages 103-108
Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU....Pages 109-116
Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients....Pages 117-122
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase ( OPLAH) Missense Changes....Pages 123-128