Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 3

Results: 20

Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 423, doi. 10.1023/A:1010545811361

By:

Elpeleg, O.;
Korman, S.

Publication type:

Article

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 421, doi. 10.1023/A:1010537527291

By:

Tóth, G.;
Morava, É.;
Bene, J.;
Selhorst, J.;
Overmars, H.;
Vreken, P.;
Molnár, J.;
Farkas, V.;
Melegh, B.

Publication type:

Article

Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 419, doi. 10.1023/A:1010585425473

By:

Boneh, A.;
Auldist, A.;
Francis, D.;
Casanelia, S.;
Warwick, L.;
Tiedemann, K.

Publication type:

Article

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 417, doi. 10.1023/A:1010533408635

By:

Albers, S.;
Levy, H.;
Irons, M.;
Strauss, A.;
Marsden, D.

Publication type:

Article

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 415, doi. 10.1023/A:1010581324565

By:

Hoover-Fong, J.;
Geraghty, M.;
Raymond, G.;
Thomas, G.

Publication type:

Article

Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 413, doi. 10.1023/A:1010577207726

By:

Tsimaratos, M.;
Kone-Paut, I.;
Divry, P.;
Philip, N.;
Chabrol, B.

Publication type:

Article

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 411, doi. 10.1023/A:1010525206818

By:

Di Rocco, M.;
Caruso, U.;
Waterham, H.;
Picco, P.;
Loy, A.;
Wanders, R.

Publication type:

Article

Ketoacidosis: an unusual presentation of MELAS.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 409, doi. 10.1023/A:1010573122748

By:

Strachan, J.;
McLellan, A.;
Kirkpatrick, M.;
Hume, R.;
Mechan, D.

Publication type:

Article

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 404, doi. 10.1023/A:1010569021839

By:

Riudor, E.;
Arranz, J.;
Alvarez, R.;
Carlsson, K.;
del Toro, M.;
Salmerón, F.;
Piñol, F.;
Ristoff, E.;
Sentís, M.;
Larsson, A.

Publication type:

Article

Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 407, doi. 10.1023/A:1010521105909

By:

Yoon, H.-R.;
Strauss, A.;
Yoo, H.-W.

Publication type:

Article

Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 393, doi. 10.1023/A:1010517005001

By:

Love-Gregory, L.;
Dyer, J.;
Grasela, J.;
Hillman, R.;
Phillips, C.

Publication type:

Article

Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene ( CYP27).

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 379, doi. 10.1023/A:1010564920930

By:

Sugama, S.;
Kimura, A.;
Chen, W.;
Kubota, S.;
Seyama, Y.;
Taira, N.;
Eto, Y.

Publication type:

Article

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 370, doi. 10.1023/A:1010560704092

By:

Stadler, S.;
Gempel, K.;
Bieger, I.;
Pontz, B.;
Gerbitz, K.-D.;
Bauer, M.;
Hofmann, S.

Publication type:

Article

Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 367, doi. 10.1023/A:1010556603183

By:

Kalkanoğlu, H.;
Coşkun, T.;
Aydoğdu, S.;
Tokatli, A.;
Gürgey, A.

Publication type:

Article

Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 359, doi. 10.1023/A:1010500502275

By:

Artuch, R.;
Colomé, C.;
Vilaseca, M.;
Sierra, C.;
Cambra, F.;
Lambruschini, N.;
Campistol, J.

Publication type:

Article

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 352, doi. 10.1023/A:1010596317296

By:

Spaapen, L.;
Bakker, J.;
Velter, C.;
Loots, W.;
Rubio-Gonzalbo, M.;
Forget, P.;
Dorland, L.;
De Koning, T.;
Poll-The, B.;
Ploos Van Amstel, H.;
Bekhof, J.;
Blau, N.;
Duran, M.

Publication type:

Article

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 345, doi. 10.1023/A:1010544316387

By:

Skrygan, M.;
Bartholomé, B.;
Bonafé, L.;
Blau, N.;
Bartholomé, K.

Publication type:

Article

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 337, doi. 10.1023/A:1010592232317

By:

Onkenhout, W.;
Venizelos, V.;
Scholte, H.;
de Klerk, J.;
Poorthuis, B.

Publication type:

Article

Clinical course and biochemistry of sialuria.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 328, doi. 10.1023/A:1010588115479

By:

Enns, G.;
Seppala, R.;
Musci, T.;
Weisiger, K.;
Ferrell, L.;
Wenger, D.;
Gahl, W.;
Packman, S.

Publication type:

Article

Management of neuronopathic Gaucher disease: A European consensus.

Published in:

Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 319, doi. 10.1023/A:1010514614570

By:

Vellodi, A.;
Bembi, B.;
de Villemeur, T.;
Collin-Histed, T.;
Erikson, A.;
Mengel, E.;
Rolfs, A.;
Tylki-Szymanska, A.

Publication type:

Article