Molecular Genetics and Metabolism
Journal
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Overview
publication venue for
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FACTs Fabry gene therapy clinical trial: Two-year data
2019
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Ketogenic therapy as an adjunct to ERT for Pompe disease
2019
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VARIATION IN DIAGNOSTIC CARE AND DISEASE CLASSIFICATION STRATEGIES FOR PAH DEFICIENCY: UPDATED FINDINGS FROM THE CANADIAN INHERITED METABOLIC DISEASES RESEARCH NETWORK (CIMDRN)
2018
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SHORT-TERM BIOLOGICAL VARIANCE OF PHE IN PATIENTS WITH PHENYLKETONURIA
2016
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SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION
2016
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Exosome-mRNA (EXERNA) therapy for Pompe disease
2016
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Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C
2016
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Exosome-mRNA therapy for Gaucher disease
2016
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Therapeutic potential of exosomes in Pompe disease: Treatment of tomorrow, today for lysosomal diseases
2015
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INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY
2014
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A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease
2013
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Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring
2013
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism
2012
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CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis
2012
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Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening
2012
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Safety and efficacy of sapropterin in children aged 0 to 6 years with phenylketonuria. preliminary findings from a long term open label study
2012
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Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease
2011
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67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiency
2010
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68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff mice
2010
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BRAIN-TARGETED THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II DELIVERED BY MICROENCAPSULATED RECOMBINANT CELLS
2009
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CONSTRUCTION OF BRAIN-TARGETED MURINE B-GALACTOSIDASE FOR APPLICATION IN THE TREATMENT OF GM1 GANGLIOSIDOSIS: MOUSE ENZYME LESS SUSCEPTIBLE TO PROTEOLYTIC DEGRADATION THAN HUMAN ENZYME
2009
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GLUTAMATE DEHYDROGENASE DEFICIENCY DUE TO A GLUDI MUTATION PRESENTING WITH HYPERAMMONEMIA AND GROWTH HORMONE DEFICIENCY WITHOUT HYPERINSULINISM
2009
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IN VITRO EFFECT OF NB-DGJ ON ARYLSULFATASE-A DEFICIENT FIBROBLASTS
2009
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LIVER DYSFUNCTION IMPROVING WITH FRUCTOSE RESTRICTION IN A PATIENT WITH ABNORMAL ISOELECTRIC FOCUSING OF SERUM GLYCOPROTEINS: A CASE REPORT
2009
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MICROENCAPSULATED BRAIN-TARGETED THERAPY FOR METACHROMATIC LEUKODYSTROPHY
2009
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Effects of novel beta-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen-deuterium exchange mass spectrometry
2008
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Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation.
2007
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Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity.
2005
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Urine sulfite assay: how important is the "freshness" of urine samples?
2004
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MINOCYCLINE - INDUCED HYPERPIGMENTATION MISDIAGNOSED AS ALKAPTONURIA IN A PATIENT WITH OCHRONOSIS
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SYMPTOMATIC MATERNAL 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY ASCERTAINED FROM NEWBORN SCREENING
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A new method for the purification of bioviable NEU1 sialidase for enzyme replacement therapy for sialidosis.
141:107892-107892.
2024
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Impact of ASGR1 on the hepatic expression and localization of NEU1.
141:107757-107757.
2024
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Nuclear localization of the NEU4 isoforms in human fibroblasts and HepG2 cell line.
141:107995-107995.
2024
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Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses.
138:107261-107261.
2023
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Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease.
137:228-240.
2022
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Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice.
135:S127-S127.
2022
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Weight gain and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
132:S357-S358.
2021
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Dysfunctional autophagy impairs muscle regeneration in lysosomal diseases.
126:S114-S114.
2019
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The genotypic and phenotypic spectrum of MTO1 deficiency.
123:28-42.
2018
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Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
118:178-184.
2016
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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014).
116:146-151.
2015
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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
114:388-396.
2015
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Corrigendum to “Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern” [Mol. Genet. Metab. 104 (2011) 587–591].
111:539-539.
2014
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Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
111:16-25.
2014
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Oxidative stress and Nrf2 signaling in McArdle disease.
110:297-302.
2013
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Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease.
108:259-262.
2013
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Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.
107:469-479.
2012
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The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis.
107:173-185.
2012
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Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A.
104:620-626.
2011
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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
104:587-591.
2011
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Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle.
100:163-167.
2010
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69. The therapeutic potential of small pharmacological molecules in the treatment of Sialidosis.
99:S22-S22.
2010
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A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency.
97:43-52.
2009
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100. Effects of novel β-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen–deuterium exchange mass spectrometry.
93:40-40.
2008
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A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
85:239-242.
2005
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Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants.
66:100-110.
1999
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Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures.
59:134-137.
1996
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Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood.
51:80-84.
1994
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Alterations of erythrocyte ghost protein phosphorylation in the duchenne and myotonic muscular dystrophies.
20:434-439.
1978
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Measurement of urine porphyrins and porphyrinogens.
15:223-232.
1976
has subject area
Identity
International Standard Serial Number (ISSN)
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0006-2944
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0885-4505
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1077-3150
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1096-7192
Electronic International Standard Serial Number (EISSN)
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1095-5577
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1096-7206
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1557-7651
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1557-7996