JIMD Reports - Case and Research Reports, 2012/2

Chapter 85 Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Chapter 87 The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients

Chapter 88 Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

Chapter 89 Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S -Sulfocysteine in Urine and Serum

Chapter 92 Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

Chapter 93 Alkaptonuria: leading to the treasure in exceptions.

Chapter 96 Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?

Chapter 99 Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy

Chapter 100 Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter

Chapter 101 Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site

Chapter 103 A Rare Galactosemia Complication: Vitreous Hemorrhage

Chapter 104 Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

Chapter 105 Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children

Chapter 106 Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy

Chapter 107 Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

Chapter 109 Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.

Chapter 110 Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

Chapter 111 Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient

Chapter 114 Expanding the Spectrum of PMM2-CDG Phenotype

Chapter 115 The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy