Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 4

Results: 14

SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 517, doi. 10.1023/A:1010598109582

By:

Meaney, C.;
Cranston, T.;
Lee, P.;
Genet, S.

Publication type:

Article

The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001.

Published in:: 2001
Publication type:: Book Review

SHORT REPORT: PKU adults and their return to diet: Predicting diet continuation and maintenance.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 515, doi. 10.1023/A:1010546000617

By:

Finkelson, L.;
Bailey, I.;
Waisbren, S.

Publication type:

Article

SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 513, doi. 10.1023/A:1010593916546

By:

Barshop, B.;
Nyhan, W.;
Climent, C.;
Rubio, V.

Publication type:

Article

CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 511, doi. 10.1023/A:1010541932476

By:

Tomaske, M.;
Bosk, A.;
Heinemann, M.;
Sieverding, L.;
Baumgartner, E.;
Fowler, B.;
Trefz, F.

Publication type:

Article

CASE REPORT: A Korean girl with α-aminoadipic and α-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 509, doi. 10.1023/A:1010589815638

By:

Lee, J-S.;
Yoon, H-R.;
Coe, C.

Publication type:

Article

CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 507, doi. 10.1023/A:1010537831567

By:

Odièvre, M.;
Brivet, M.;
Rivière, M-F.;
Labrune, P.

Publication type:

Article

CASE REPORT: Early-onset lysosomal glycogen storage disease with normal acid maltase.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 504, doi. 10.1023/A:1010585714729

By:

Dayan, R.;
Renaud, D.

Publication type:

Article

Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 493, doi. 10.1023/A:1010533730659

By:

Ruiz-Sanz, J.;
Aldamiz-Echevarria, L.;
Arrizabalaga, J.;
Aquino, L.;
Jimeno, P.;
Pérez-Nanclares, G.;
Sanjurjo, P.

Publication type:

Article

Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 465, doi. 10.1023/A:1010529629750

By:

Yager, C.;
Gibson, J.;
States, B.;
Elsas, L.;
Segal, S.

Publication type:

Article

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 477, doi. 10.1023/A:1010581613821

By:

Van Geet, C.;
Jaeken, J.;
Freson, K.;
Lenaerts, T.;
Arnout, J.;
Vermylen, J.;
Hoylaerts, M.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 448, doi. 10.1023/A:1010577512912

By:

Mudd, S.;
Cerone, R.;
Schiaffino, M.;
Fantasia, A.;
Minniti, G.;
Caruso, U.;
Lorini, R.;
Watkins, D.;
Matiaszuk, N.;
Rosenblatt, D.;
Schwahn, B.;
Rozen, R.;
LeGros, L.;
Kotb, M.;
Capdevila, A.;
Luka, Z.;
Finkelstein, J.;
Tangerman, A.;
Stabler, S.;
Allen, R.

Publication type:

Article

The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 437, doi. 10.1023/A:1010525528842

By:

Yap, S.;
Rushe, H.;
Howard, P.;
Naughten, E.

Publication type:

Article

Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 427, doi. 10.1023/A:1010588112003

By:

Somers, K.;
Brown, D.;
Fulton, R.;
Schultheiss, P.;
Hamar, D.;
Smith, M.;
Allison, R.;
Connally, H.;
Just, C.;
Mitchell, T.;
Wenger, D.;
Thrall, M.

Publication type:

Article