Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 1

Results: 16

Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology.

Published in:

2001

By:

Gilbert-Barness, E.;
Barness, L.

Publication type:

Book Review

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 87, doi. 10.1023/A:1005691730058

By:

Herzog, B.;
Morris, A.;
Saunders, C.;
Eschrich, K.

Publication type:

Article

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 85, doi. 10.1023/A:1005635629149

By:

Rudolfová, J.;
Slováčková, R.;
Trbušek, M.;
Pešková, K.;
Št'astná, S.;
Kozák, L.

Publication type:

Article

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 83, doi. 10.1023/A:1005627311402

By:

Coll, M.;
Antón, C.;
Chabás, A.

Publication type:

Article

A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 81, doi. 10.1023/A:1005671109585

By:

Barić, I.;
Sarnavka, V.;
Fumić, K.;
Maradin, M.;
Begović, D.;
Ruiter, J.;
Wanders, R.

Publication type:

Article

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 79, doi. 10.1023/A:1005667024606

By:

Briones, P.;
Girós, M.;
Martinez, V.

Publication type:

Article

Congenital porto–left renal venous shunt as a cause of galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 72, doi. 10.1023/A:1005615023698

By:

Mizoguchi, N.;
Sakura, N.;
Ono, H.;
Naito, K.;
Hamakawa, M.

Publication type:

Article

Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 65, doi. 10.1023/A:1005662906859

By:

Salman, M.;
Clarke, J.;
Midroni, G.;
Waxman, M.

Publication type:

Article

Survival of two patients with severe δ-aminolaevulinic acid dehydratase deficiency porphyria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 60, doi. 10.1023/A:1005610922789

By:

Gross, U.;
Sassa, S.;
Arndt, T.;
Doss, M.

Publication type:

Article

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 51, doi. 10.1023/A:1005606805951

By:

Sim, K.;
Wiley, V.;
Carpenter, K.;
Wilcken, B.

Publication type:

Article

Genetic analysis of phytosterolaemia.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 43, doi. 10.1023/A:1005650605042

By:

Togo, M.;
Toda, T.;
Nguyen, L.;
Kubota, S.;
Tsukamoto, K.;
Satoh, H.;
Hara, M.;
Iso-o, N.;
Noto, H.;
Kimura, S.;
Nakahara, K.;
Seyama, Y.;
Hashimoto, Y.

Publication type:

Article

Features of carnitine palmitoyltransferase type I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 35, doi. 10.1023/A:1005694320063

By:

Olpin, S.;
Allen, J.;
Bonham, J.;
Clark, S.;
Clayton, P.;
Calvin, J.;
Downing, M.;
Ives, K.;
Jones, S.;
Manning, N.;
Pollitt, R.;
Standing, S.;
Tanner, M.

Publication type:

Article

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 28, doi. 10.1023/A:1005642302316

By:

Lerman-Sagie, T.;
Rustin, P.;
Lev, D.;
Yanoov, M.;
Leshinsky-Silver, E.;
Sagie, A.;
Ben-Gal, T.;
Munnich, A.

Publication type:

Article

Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 5, doi. 10.1023/A:1005682017337

By:

Potter, M.;
Hammond, J.;
Sim, K.-G.;
Green, A.;
Wilcken, B.

Publication type:

Article

Phenylketonuria: Tyrosine beyond the phenylalanine-restricted diet.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 1, doi. 10.1023/A:1005689232358

By:

van Spronsen, F.;
Smit, P.;
Koch, R.

Publication type:

Article

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246

By:

Wittig, I.;
Augstein, P.;
Brown, G.;
Fujii, T.;
Rötig, A.;
Rustin, P.;
Munnich, A.;
Seibel, P.;
Thorburn, D.;
Wissinger, B.;
Tamboom, K.;
Metspalu, A.;
Lamantea, E.;
Zeviani, M.;
Wehnert, M.

Publication type:

Article