Molecular genetics and metabolism reports.

• VerfasserIn: Elsevier Inc.,
• Place / Publishing House: [New York, NY] : : Elsevier Inc.,, [2014]-
• Publication history: Began with Volume 1 (2014).
• Language: English
• Physical Description: 1 online resource
• Notes: Refereed/Peer-reviewed

Table of Contents

• Editorial
• Editorial
• Short Communication
• Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
• Growth charts for patients with Hunter syndrome
• Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann-Pick Type C disease models
• Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA
• Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia
• Effect of isolated AMP deaminase deficiency on skeletal muscle function
• Letter to the Editor
• The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria
• Short Communication
• Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW
• Case Report
• Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies
• Research Papers
• Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene
• Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey
• Short Communication
• A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
• Research Papers
• Biochemical and physiological improvement in a mouse model of Smith-Lemli-Opitz syndrome (SLOS) following gene transfer with AAV vectors
• Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
• Case Reports
• Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
• Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
• Research Paper
• A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome
• Letter to the Editor
• Pain in adult patients with Pompe disease
• Research Papers
• Accuracy of formula preparation equipment for liquid measurement
• Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports
• Differential hexosamine biosynthetic pathway gene expression with type 2 diabetes
• Glutaric Aciduria type I and acute renal failure - Coincidence or causality?
• Case Report
• Lysinuric protein intolerance presenting with multiple fractures
• The Lysosome
• Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
• Research Paper
• Metyrapone, an inhibitor of cytochrome oxidases, does not affect viability in a neuroblastoma cell model of bilirubin toxicity
• Case Report
• ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
• Research Paper
• Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
• Letter to the Editor
• Comments on 'Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures' in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 by M.G. de Roo, N.G. Abeling, C.B. Majoie, A.M. Bosch, J.H. Koelman, J.M. Cobben, M. Duran, B.T. Poll-The
• Research Paper
• Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease.