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Glycine N‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

Journal of inherited metabolic disease, 2001-07, Vol.24 (4), p.448-464

2001

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Complementation studies in the cblA class of inborn error of cobalamin metabolism : evidence for interallelic complementation and for a new complementation class (cblH)

Journal of medical genetics, 2000-07, Vol.37 (7), p.510-513

2000

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Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism

Science (American Association for the Advancement of Science), 1985-06, Vol.228 (4705), p.1319-1321

1985

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Seven novel mutations in mut methylmalonic aciduria

Human mutation, 1998, Vol.11 (4), p.270-274

1998

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Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria

The Journal of clinical investigation, 1994-04, Vol.93 (4), p.1812-1819

1994

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Differential effects of folinic acid and glycine, adenosine, and thymidine as rescue agents in methotrexate-treated human cells in relation to the accumulation of methotrexate polyglutamates

Molecular pharmacology, 1982-05, Vol.21 (3), p.718

1982

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Inhibition of Methotrexate Polyglutamate Accumulation in Cultured Human Cells

Molecular pharmacology, 1981-01, Vol.19 (1), p.87-91

1981

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Vitamin B 12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH

Genetics in medicine, 2000-01, Vol.2 (1), p.73

2000

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Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency

Advances in experimental medicine and biology, 1993, Vol.338, p.703

1993

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A common mutation among blacks with mut- methylmalonic aciduria

Human mutation, 1998, Vol.Suppl 1, p.S248-S250

1998

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Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency

American journal of medical genetics, 1993-03, Vol.45 (5), p.619-624

1993

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Methylenetetrahydrofolate reductase (MR) deficiency: Thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts

Biochemical medicine and metabolic biology, 1992-06, Vol.47 (3), p.221-225

1992

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Cloning and expression of mutations demonstrating intragenic complementation in mut super(0) methylmalonic aciduria

The Journal of clinical investigation, 1994-01, Vol.93 (4), p.1812-1819

1994

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Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

The Journal of clinical investigation, 1984-12, Vol.74 (6), p.2149-2156

1984

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Expression of transcobalamin II by amniocytes

Prenatal diagnosis, 1987-01, Vol.7 (1), p.35-39

1987

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Defect in vitamin B sub(12) release from lysosomes: Newly described inborn error of vitamin B sub(12) metabolism

Science (American Association for the Advancement of Science), 1985-01, Vol.228 (4705), p.1319-1321

1985

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Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency

American journal of medical genetics, 1993-03, Vol.45 (5), p.619-624

1993

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Varying neurological phenotypes among mut super(0) and mut super(-) patients with methylmalonylCoA mutase deficiency

American journal of medical genetics, 1993-01, Vol.45 (5), p.619-624

1993

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Glycine N‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

Complementation studies in the cblA class of inborn error of cobalamin metabolism : evidence for interallelic complementation and for a new complementation class (cblH)

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism

Seven novel mutations in mut methylmalonic aciduria

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria

Differential effects of folinic acid and glycine, adenosine, and thymidine as rescue agents in methotrexate-treated human cells in relation to the accumulation of methotrexate polyglutamates

Inhibition of Methotrexate Polyglutamate Accumulation in Cultured Human Cells

Vitamin B 12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH

Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency

A common mutation among blacks with mut- methylmalonic aciduria

Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency

Methylenetetrahydrofolate reductase (MR) deficiency: Thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts

Cloning and expression of mutations demonstrating intragenic complementation in mut super(0) methylmalonic aciduria

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

Expression of transcobalamin II by amniocytes

Defect in vitamin B sub(12) release from lysosomes: Newly described inborn error of vitamin B sub(12) metabolism

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency

Varying neurological phenotypes among mut super(0) and mut super(-) patients with methylmalonylCoA mutase deficiency

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