Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
The challenge of CDG diagnosis.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.11.003
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.04.007
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
来源期刊：Molecular genetics and metabolismDOI：10.1016/J.YMGME.2019.03.002
Safety, tolerability and pharmacokinetics of oral venglustat in Parkinson disease patients with a GBA mutation
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.298
Acute hepatic porphyrias: Current diagnosis & management.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.07.002
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.01.020
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.11.009
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.02.004
Critical review of current MPS guidelines and management.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.07.001
Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.04.007
5-Aminolevulinate synthase catalysis: The catcher in heme biosynthesis.
来源期刊：Molecular genetics and metabolismDOI：10.1016/J.YMGME.2019.06.003
Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.02.005
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism.
来源期刊：Molecular genetics and metabolismDOI：10.1016/J.YMGME.2019.03.004
Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.211
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
来源期刊：Molecular genetics and metabolismDOI：10.1016/J.YMGME.2019.07.018
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.08.003
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.11.006
White matter lesions in treated late onset Pompe disease are not different to matched controls.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.05.007
Clinical characterization of tremor in patients with phenylketonuria.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.05.017
Efficacy of low dose nitisinone in the management of alkaptonuria.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.06.006
The mitochondrial heme metabolon: Insights into the complex(ity) of heme synthesis and distribution.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.01.006
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.05.011
Resolving complexity in mitochondrial disease: Towards precision medicine.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.09.003
Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.10.013
Platform technology for treatment of the brain in lysosomal disorders: Application to Niemann-Pick disease type A
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.238
Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.08.008
Multiplex DBS enzyme assay for MPS II, IIIB, IVA, VI, VII and CLN2 via LC-MS/MS expands clinical utility of DBS enzyme testing
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.303
Functional evaluation of an AAV9 based vector expressing alpha-galactosidase A for potential gene therapy of Fabry disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.288
The effects of long-term migalastat treatment in Fabry disease patients previously treated with enzyme replacement therapy who have migalastat-amenable variants with low alpha-galactosidase A response in the in vitro migalastat amenability assay
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.272
Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.12.010
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.06.008
Improved brain uptake and efficacy of iduronate 2-sulfatase with the enzyme transport vehicle
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.174
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2018.12.001
Fabry disease: Incidence of pathogenic GLA mutations estimated by newborn screening studies
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.279
Interfamily variability in patients with classical Fabry disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.224
Insights into Sanfilippo syndrome provided by the ConnectMPS worldwide online registry
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/j.ymgme.2018.12.076
Quantitative evaluation of white matter hyperintensities in the central nervous system in infantile Pompe disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.214
Mucopolysaccharide quantitation in urine by LC-MS/MS
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.221
Evaluating the content validity of the Diary of Irritable Bowel Syndrome Symptoms - Mixed (DIBSS-M) to assess gastrointestinal symptoms associated with Fabry disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.215
Distribution of chemically modified rhSulfamidase to CNS monitored by brain microdialysis and repeated CSF sampling after intravenous administration in rat
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.193
Functional, biochemical and transcriptional rescue of advanced Pompe disease in mice with liver expression of secretable GAA
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/j.ymgme.2018.12.069
Characterization of 4L/PS-NA mice for enzyme activity, substrate concentrations as well as inflammation to model Gaucher disease
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.275
The impact of newborn screening for lysosomal disorders in a non-screening adjacent state
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.243
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.09.001
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
来源期刊：Molecular genetics and metabolismDOI：10.1016/j.ymgme.2019.07.004
Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.189
Accreditation: A challenge for a research laboratory
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.257
NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.294
Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.171
Enzyme replacement therapy together with renin-angiotensin system inhibition seems to prevent kidney function decrease in most Finnish Fabry patients treated either for 5 or 10 years
来源期刊：Molecular Genetics and MetabolismDOI：10.1016/J.YMGME.2018.12.200
