Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 6

Results: 29

The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle.

Published in:

1997

By:

Addison, G.

Publication type:

Book Review

Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Edited by N. Blau, M. Duran and M.E. Blaskovics.

Published in:

1997

By:

Besley, G.T.N.

Publication type:

Book Review

A Clinical Guide to Inherited Metabolic Diseases. By J.T.R. Clarke.

Published in:

1997

By:

Besley, G.T.N.

Publication type:

Book Review

Subject Index to Volume 20.

Published in:: Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 855, doi. 10.1023/A:1017160928009
Publication type:: Article

Author Index to Volume 20.

Published in:: Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 851, doi. 10.1023/A:1017147110262
Publication type:: Article

L-3-Hydroxyacyl-CoA dehydrogenase deficiency: Two cases with pigmentary retinopathy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 848, doi. 10.1023/A:1005356826192

By:

Uusimaa, J.;
Vainionpää, L.;
Similä, S.;
Miettinen, R.;
Nuutinen, M.

Publication type:

Article

Leucine and glucose kinetics in glycogen storage disease type IIIa.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 847, doi. 10.1023/A:1005304809354

By:

Bodamer, O.;
Mayatepek, E.;
Leonard, J.

Publication type:

Article

Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 845, doi. 10.1023/A:1005352725283

By:

Guldberg, P.;
Henriksen, K.;
Mammen, K.;
Levy, H.;
Güttler, F.

Publication type:

Article

Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 842, doi. 10.1023/A:1005300708445

By:

Mayatepek, E.;
Koch, H.;
Hoffmann, G.

Publication type:

Article

Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 840, doi. 10.1023/A:1005348624375

By:

Renner, C.;
Razeghi, S.;
Überall, M.;
Hartmann, P.;
Lehnert, W.

Publication type:

Article

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 839, doi. 10.1023/A:1005344507536

By:

Hinnie, J.;
Colombo, J.;
Wermuth, B.;
Dryburgh, F.

Publication type:

Article

Mitochondrial respiratory chain succinate-cytochrome-c oxidoreductase deficiency and hepatic cirrhosis.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 837, doi. 10.1023/A:1005392406628

By:

Sewell, A.;
Herwig, J.;
Böhles, H.;
Sperl, W.

Publication type:

Article

Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 835, doi. 10.1023/A:1005340322558

By:

Grünewald, S.;
Bakkeren, J.;
Wanders, R.;
Wendel, U.

Publication type:

Article

The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 833, doi. 10.1023/A:1005388205719

By:

Jones, K.;
Wilcken, B.;
Kilham, H.

Publication type:

Article

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 831, doi. 10.1023/A:1005384121649

By:

Bass, H.;
LaGrave, D.;
Mardach, R.;
Cederbaum, S.;
Fuster, C.;
Chetty, M.

Publication type:

Article

Absence of common trifunctional protein mutation in patients with Alpers disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 828, doi. 10.1023/A:1005332120740

By:

Yang, Z.;
Youil, R.;
Thorburn, D.;
Chow, C.;
Cotton, R.;
Baldwin, G.

Publication type:

Article

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 817, doi. 10.1023/A:1005380003902

By:

Charlwood, J.;
Clayton, P.;
Johnson, A.;
Keir, G.;
Mian, N.;
Winchester, B.

Publication type:

Article

A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 811, doi. 10.1023/A:1005328019832

By:

Naidu, S.;
Dlouhy, S.R.;
Geraghty, M.T.;
Hodes, M.E.

Publication type:

Article

Allergic disease as an association of steroid sulphatase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 807, doi. 10.1023/A:1005375902993

By:

Sakura, N.;
Nishimura, S.;
Matsumoto, T.;
Ohsaki, M.;
Ogata, T.

Publication type:

Article

Mutations among Italian mucopolysaccharidosis type I patients.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 803, doi. 10.1023/A:1005323918923

By:

Gatti, R.;
DiNatale, P.;
Villani, G.R.D.;
Filocamo, M.;
Muller, V.;
Guo, X.-H.;
Nelson, P.V.;
Scott, H.S.;
Hopwood, J.

Publication type:

Article

Aspartylglucosaminuria among Palestinian Arabs.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 799, doi. 10.1023/A:1005371802085

By:

Zlotogora, J.;
Ben-Neriah, Z.;
Abu-Libdeh, B.;
Zeigler, M.

Publication type:

Article

Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 790, doi. 10.1023/A:1005319818015

By:

Nuoffer, J.;
Mullis, P.;
Wiesmann, U.

Publication type:

Article

Inborn errors of metabolism with a protein-restricted diet: Effect on polyunsaturated fatty acids.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 783, doi. 10.1023/A:1005367701176

By:

Sanjurjo, P.;
Ruiz, J.;
Montejo, M.

Publication type:

Article

Essential fatty acids in clinically stable children with propionic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 778, doi. 10.1023/A:1005315717106

By:

Decsi, T.;
Sperl, W.;
Koletzko, B.

Publication type:

Article

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 769, doi. 10.1023/A:1005363600268

By:

García-Pérez, M.;
Climent, C.;
Briones, P.;
Vilaseca, M.;
Rodés, M.;
Rubio, V.

Publication type:

Article

Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 761, doi. 10.1023/A:1005359416197

By:

Wajner, M.;
Coelho, J.C.

Publication type:

Article

Cerebral metabolic changes in biotinidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 755, doi. 10.1023/A:1005307415289

By:

Schürmann, M.;
Engelbrecht, V.;
Lohmeier, K.;
Lenard, H.;
Wendel, U.;
Gärtner, J.

Publication type:

Article

Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 742, doi. 10.1023/A:1005303331218

By:

Lin, C.M.;
Tan, Y.;
Lee, Y.M.;
Chang, C.C.;
Hsiao, K.J.

Publication type:

Article

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 731, doi. 10.1023/A:1005372730310

By:

Fowler, B.;
Schutgens, R.B.H.;
Rosenblatt, D.S.;
Smit, G.P.A.;
Lindemans, J.

Publication type:

Article