UB Paderborn / Katalog / Suche / in CDI

1 – 17 von 17

Sortiert nach

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

Seven novel mutations in mut methylmalonic aciduria

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

1998

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

Inhibition of Methotrexate Polyglutamate Accumulation in Cultured Human Cells

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

1981

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

A common mutation among blacks with mut- methylmalonic aciduria

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

1998

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

Expression of transcobalamin II by amniocytes

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

1987

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

1 – 17 von 17

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(13)
Mit Volltextzugriff
(16)

Publikationsform

Artikel
(17)

Sprache

Englisch
(17)

Erscheinungsjahr

n.n

Menü

Weitere Dienste

Einstellungen

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)

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

Suchergebnisse filtern