Works matching IS 01418955 AND DT 1997 AND VI 20

Results: 159

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

Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 728, doi. 10.1023/A:1005359417508

By:

Stankovics, J.;
Molnár, D.;
Burus, I.;
Pintér, Z.

Publication type:

Article

Hyperphagia in patients with α-mannosidosis type II.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 727, doi. 10.1023/A:1005307400669

By:

Owayed, A.;
Clarke, J.T.R.

Publication type:

Article

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 725, doi. 10.1023/A:1005355316599

By:

Wanders, R.J.A.;
Vilarinho, L.;
Hartung, H.P.;
Hoffmann, G.F.;
Mooijer, P.A.W.;
Jansen, G.A.;
Huijmans, J.G.M.;
de Klerk, J.B.C.;
ten Brink, H.J.;
Jakobs, C.;
Duran, M.

Publication type:

Article

Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 723, doi. 10.1023/A:1005303332529

By:

Lenicker, H.M.;
Agius, P.;
Young, E.P.;
Montalto, S.P.

Publication type:

Article

Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 721, doi. 10.1023/A:1005351215690

By:

Mayatepek, E.;
Tiepelmann, B.;
Hoffmann, G.F.

Publication type:

Article

Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 719, doi. 10.1023/A:1005399131620

By:

Holopainen, I.;
Pulkki, K.;
Heinonen, O.J.;
Näntö-Salonen, K.;
Haataja, L.;
Greter, J.;
Holme, E.;
van Kuilenburg, A.B.P.;
Vreken, P.;
van Gennip, A.H.

Publication type:

Article

Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 717, doi. 10.1023/A:1005347114782

By:

Meissner, T.;
Mayatepek, E.

Publication type:

Article

Carnitine-acylcarnitine translocase deficiency - a mild phenotype.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 714, doi. 10.1023/A:1005343013873

By:

Olpin, S.E.;
Bonham, J.R.;
Downing, M.;
Manning, N.J.;
Pollitt, R.J.;
Sharrard, M.J.;
Tanner, M.S.

Publication type:

Article

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 712, doi. 10.1023/A:1005390829803

By:

Gibson, K.;
Feigenbaum, A.

Publication type:

Article

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 711, doi. 10.1023/A:1005338812965

By:

Yoshino, M.;
Nishiyori, A.;
Koga, Y.;
Mizushima, Y.;
Maeshiro, H.;
Inoue, T.;
Izumi, S.;
Hatase, T.;
Yakushiji, M.;
Kato, H.

Publication type:

Article

Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 709, doi. 10.1023/A:1005386728894

By:

Byrne, C.D.;
Bermann, L.;
Constant, C.;
Cox, T.M.

Publication type:

Article

Biotinidase deficiency with neurological features resembling multiple sclerosis.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 707, doi. 10.1023/A:1005334712056

By:

Tokatlι, A.;
Coşkun, T.;
Özalp, İ.

Publication type:

Article

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 705, doi. 10.1023/A:1005382627986

By:

Steen, C.;
Rosenblatt, D.;
Scheying, H.;
Braeuer, H.;
Kohlschütter, A.

Publication type:

Article

Heterogeneous presentation in Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 704, doi. 10.1023/A:1005330611147

By:

Vilarinho, L.;
Maia, C.;
Coelho, T.;
Coutinho, P.;
Santorelli, F.

Publication type:

Article

The association between haematological manifestation and mtDNA deletions in Pearson syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 697, doi. 10.1023/A:1005378527077

By:

Muraki, K.;
Nishimura, S.;
Goto, Y.;
Nonaka, I.;
Sakura, N.;
Ueda, K.

Publication type:

Article

Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 689, doi. 10.1023/A:1005326510239

By:

Tarn, A.;
von Schnakenburg, C.;
Rumsby, G.

Publication type:

Article

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 681, doi. 10.1023/A:1005374426168

By:

Assmann, B.;
Hoffmann, G.;
Wagner, L.;
Bräutigam, C.;
Seyberth, H.;
Duran, M.;
Van Kuilenburg, A.;
Wevers, R.;
Van Gennip, A.

Publication type:

Article

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 674, doi. 10.1023/A:1005322409330

By:

Marin-Garcia, J.;
Ananthakrishnan, R.;
Goldenthal, M.;
Filiano, J.;
Perez-Atayde, A.

Publication type:

Article

Peroxisomal localization of α-oxidation in human liver.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 665, doi. 10.1023/A:1005370325260

By:

Casteels, M.;
Croes, K.;
Van Veldhoven, P.;
Mannaerts, G.

Publication type:

Article

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 658, doi. 10.1023/A:1005318308422

By:

Christensen, E.;
Pedersen, S.;
Leth, H.;
Jakobs, C.;
Schutgens, R.;
Wanders, R.

Publication type:

Article

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 643, doi. 10.1023/A:1005366224351

By:

Fitzmaurice, T.F.;
Desnick, R.J.;
Bishop, D.F.

Publication type:

Article