Brian Fowler
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 32 publications
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
Journal: Journal of inherited metabolic disease
Published: February 07, 2022
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Journal: Journal of human genetics
Published: June 15, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: November 15, 2018
Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.
Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.
Journal: Journal of inherited metabolic disease
Published: August 21, 2018
Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Journal: Journal of the neurological sciences
Published: July 28, 2017
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Journal: The Journal of biological chemistry
Published: March 06, 2017
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Journal: Journal of inherited metabolic disease
Published: May 27, 2016
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Journal: Human mutation
Published: March 04, 2016
Successful intrauterine treatment of a patient with cobalamin C defect.
Journal: Molecular genetics and metabolism reports
Published: December 18, 2015
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Journal: Human mutation
Published: November 28, 2015
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Journal: The Journal of biological chemistry
Published: August 04, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Journal: Journal of inherited metabolic disease
Published: March 11, 2015
Last Updated: 09/26/2026