JIMD Reports - Case and Research Reports, 2011/1: Case and Research Reports

Front Matter....Pages i-vi
Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors....Pages 1-7
Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians....Pages 9-15
Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease....Pages 17-21
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1 ....Pages 23-27
Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders....Pages 29-36
First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance....Pages 37-38
Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease....Pages 39-42
Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance....Pages 43-47
Outcomes of Phenylketonuria with Relevance to Follow-Up....Pages 49-55
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase....Pages 57-64
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?....Pages 65-72
Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study....Pages 73-78
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease....Pages 79-82
Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency....Pages 83-88
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene....Pages 89-96
Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia....Pages 97-106
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential....Pages 107-109
Utility of Rare Disease Registries in Latin America....Pages 111-115
The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations....Pages 117-123
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue....Pages 125-129
Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)....Pages 131-136