about
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disordersCerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneMultigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.Enzyme replacement therapy and antibodies in late-onset Pompe disease.Pain in adult patients with Pompe disease.Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.Prevalence of adenylosuccinate lyase deficiency based on aggregated exome dataStability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trialTreatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine diseaseAtypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Evaluation of whole genome amplified DNA to decrease material expenditure and increase quality.Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II.Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.The factors affecting lipid profile in adult patients with MucopolysaccharidosisPrevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina.Growth charts for patients with Hunter syndrome.A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.Higher oxidative stress in skeletal muscle of McArdle disease patients.Why does Leigh syndrome respond to immunotherapy?Fabry disease: Four case reports of meningioma and a review of the literature on other malignanciesNext-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencingExome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotypeSerum β2-microglobulin is frequently elevated in type 1 Gaucher patients.Obstetric risk in patients with myopathy due to MATR3 mutations.Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical diseaseEffects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activityCorrective effects of hepatotoxicity by hepatic Dyrk1a gene delivery in mice with intermediate hyperhomocysteinemia.ALG11-CDG: Three novel mutations and further characterization of the phenotype.When should social service referral be considered in phenylketonuria?Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature
P1433
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P1433
description
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
scientific journal
@en
wetenschappelijk tijdschrift van Elsevier
@nl
wissenschaftliche Fachzeitschrift
@de
науковий журнал
@uk
name
Molecular Genetics and Metabolism Reports
@ast
Molecular Genetics and Metabolism Reports
@de
Molecular Genetics and Metabolism Reports
@en
Molecular Genetics and Metabolism Reports
@es
Molecular Genetics and Metabolism Reports
@fr
Molecular genetics and metabolism reports
@nl
type
label
Molecular Genetics and Metabolism Reports
@ast
Molecular Genetics and Metabolism Reports
@de
Molecular Genetics and Metabolism Reports
@en
Molecular Genetics and Metabolism Reports
@es
Molecular Genetics and Metabolism Reports
@fr
Molecular genetics and metabolism reports
@nl
altLabel
Mol Genet Metab Rep
@en
prefLabel
Molecular Genetics and Metabolism Reports
@ast
Molecular Genetics and Metabolism Reports
@de
Molecular Genetics and Metabolism Reports
@en
Molecular Genetics and Metabolism Reports
@es
Molecular Genetics and Metabolism Reports
@fr
Molecular genetics and metabolism reports
@nl
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P3181
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P1055
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21100326555
P123
P1476
Molecular Genetics and Metabolism Reports
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P236
P3181
P407
P5115
P5963
molecular-genetics-and-metabolism-reports