JIMD Reports - Case and Research Reports, 2011/1

Chapter 8 Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

Chapter 9 Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

Chapter 10 Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Chapter 11 Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

Chapter 12 Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

Chapter 13 First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

Chapter 14 Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease

Chapter 15 Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

Chapter 16 Outcomes of Phenylketonuria with Relevance to Follow-Up

Chapter 17 Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

Chapter 18 Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Chapter 19 Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

Chapter 20 Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease

Chapter 21 Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency

Chapter 22 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene

Chapter 23 Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia

Chapter 24 Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

Chapter 25 Utility of Rare Disease Registries in Latin America

Chapter 26 The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

Chapter 27 Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue

Chapter 28 Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)