Molecular Genetics and Metabolism - Volume 94 - Issue 3

Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

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Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

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Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells

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Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

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Early and presymptomatic detection of Wilson’s disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay

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Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson–Mendenhall syndrome

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Upstream transcription factor 1 (USF1) in risk of type 2 diabetes: Association study in 2000 Dutch Caucasians

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The PPARγ2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy

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Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

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Inherited endocrinopathies: An update

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Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: Common gene sequence variation and functional characterization

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Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

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Reduced α-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease

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Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

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Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice

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Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

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Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

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The aggresome pathway as a target for therapy in hematologic malignancies

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