Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 3

Results: 33

Localization of receptors for endocytosis of lysosomal enzymes on different brain cells.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 313, doi. 10.1023/A:1005305213832

By:

Schluff, P.;
Flott-Rahmel, B.;
Gieselmann, V.;
Zimmer, P.;
Das, A.;
Ullrich, K.

Publication type:

Article

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 309, doi. 10.1023/A:1005353129761

By:

Wanders, R.;
Romeijn, G.

Publication type:

Article

Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 306, doi. 10.1023/A:1005301112923

By:

Brites, P.;
Motley, A.;
Hogenhout, E.;
Hettema, E.;
Wijburg, F.;
Heijmans, H.;
Tabak, H.;
Distel, B.;
Wanders, R.

Publication type:

Article

Identification of the newly discovered 58kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 302, doi. 10.1023/A:1005349028853

By:

Wanders, R.;
Denis, S.;
van Berkel, E.;
Wouters, F.;
Wirtz, K.;
Seedorf, U.

Publication type:

Article

Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 298, doi. 10.1023/A:1005396912015

By:

van Grunsven, E.;
van Berkel, E.;
Lemonde, H.;
Clayton, P.;
Wanders, R.

Publication type:

Article

Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 295, doi. 10.1023/A:1005344927944

By:

Mayatepek, E.;
Wanders, R.

Publication type:

Article

Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 292, doi. 10.1023/A:1005340811106

By:

Mayatepek, E.;
Jakobs, C.

Publication type:

Article

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 288, doi. 10.1023/A:1005388710197

By:

Jansen, G.;
Ferdinandusse, S.;
Skjeldal, O.;
Stokke, O.;
De Groot, C.;
Jakobs, C.;
Wanders, R.

Publication type:

Article

X-linked adrenoleukodystrophy: Improved prenatal diagnosis using both biochemical and immunological methods.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 285, doi. 10.1023/A:1005336726127

By:

Wanders, R.;
Mooyer, P.;
Dekker, C.;
Vreken, P.

Publication type:

Article

Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G→A point mutation.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 280, doi. 10.1023/A:1005384609289

By:

van Kuilenburg, A.;
Vreken, P.;
Beex, L.;
De Abreu, R.;
van Gennip, A.

Publication type:

Article

Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 276, doi. 10.1023/A:1005380525218

By:

Vreken, P.;
van Kuilenburg, A.;
Meinsma, R.;
Beemer, F.;
Duran, M.;
van Gennip, A.

Publication type:

Article

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 272, doi. 10.1023/A:1005328424310

By:

Christensen, E.;
Cezanne, I.;
KjÆrgaard, S.;
Hørlyk, H.;
Faurholt Pedersen, V.;
Vreken, P.;
van Kuilenburg, A.;
van Gennip, A.

Publication type:

Article

Disturbed metabolism of guanidino compounds characterized by elevated excretion of β-guanidinopropionic acid and γ-guanidinobutyric acid – An effect of vigabatrin treatment?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 268, doi. 10.1023/A:1005376307471

By:

Schulze, A.;
Mayatepek, E.;
Frank, S.;
Marescau, B.;
De Deyn, P.;
Bachert, P.

Publication type:

Article

Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 262, doi. 10.1023/A:1005324323401

By:

Huizing, M.;
Wendel, U.;
Ruitenbeek, W.;
Iacobazzi, V.;
Ijlst, L.;
Veenhuizen, P.;
Savelkoul, P.;
van den Heuvel, L.;
Smeitink, J.;
Wanders, R.;
Trijbels, J.;
Palmieri, F.

Publication type:

Article

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 255, doi. 10.1023/A:1005368106563

By:

Gibson, K.;
Sweetman, L.;
Kozich, V.;
Pijackova, A.;
Tscharre, A.;
Cortez, A.;
Eyskens, F.;
Jakobs, C.;
Duran, M.;
Poll-The, B.

Publication type:

Article

L-2-Hydroxyglutaric aciduria and lactic acidosis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 251, doi. 10.1023/A:1005316121584

By:

Barth, P.;
Wanders, R.;
Scholte, H.;
Abeling, N.;
Jakobs, C.;
Schutgens, R.;
Vreken, P.

Publication type:

Article

D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 247, doi. 10.1023/A:1005364004746

By:

Wagner, L.;
Hoffmann, G.;
Jakobs, C.

Publication type:

Article

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 243, doi. 10.1023/A:1005359920675

By:

Busquets, C.;
Coll, M.;
Christensen, E.;
Campistol, J.;
Clusellas, N.;
Vilaseca, M.;
Ribes, A.

Publication type:

Article

Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 240, doi. 10.1023/A:1005307919767

By:

Abeling, N.;
van Gennip, A.;
Barth, P.;
van Cruchten, A.;
Westra, M.;
Wijburg, F.

Publication type:

Article

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 236, doi. 10.1023/A:1005355802928

By:

Spada, M.;
Dianzani, I.;
Bonetti, G.;
Biondi, A.;
Leone, L.;
Ponzone, A.

Publication type:

Article

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 232, doi. 10.1023/A:1005303818858

By:

Shin, Y.;
Koch, H.;
Köhler, M.;
Hoffmann, G.;
Patsoura, A.;
Podskarbi, T.

Publication type:

Article

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 227, doi. 10.1023/A:1005399602020

By:

Visser, G.;
Herwig, J.;
Rake, J.;
Niezen-Koning, K.;
Verhoeven, A.;
Smit, G.

Publication type:

Article

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 224, doi. 10.1023/A:1005347501111

By:

De Meirleir, L.;
Specola, N.;
Seneca1, S.;
Lissens, W.

Publication type:

Article

Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: First experience.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 220, doi. 10.1023/A:1005395417041

By:

Das, A.;
Ullrich, K.

Publication type:

Article

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203

By:

Rabier, D.;
Diry, C.;
Rotig, A.;
Rustin, P.;
Heron, B.;
Bardet, J.;
Parvy, P.;
Ponsot, G.;
Marsac, C.;
Saudubray, J.;
Munnich, A.;
Kamoun, P.

Publication type:

Article

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 210, doi. 10.1023/A:1005339332062

By:

Loeffen, J.;
Smeets, R.;
Smeitink, J.;
Ruitenbeek, W.;
Janssen, A.;
Mariman, E.;
Sengers, R.;
Trijbels, F.;
van den Heuvel, L.

Publication type:

Article

Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: A mouse model for aspartylglycosaminuria.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 207, doi. 10.1023/A:1005387215224

By:

Kaartinen, V.;
Mononen, I.;
Gonzales-Gomez, I.;
Noronkoski, T.;
Heisterkamp, N.;
Groffen, J.

Publication type:

Article

Copper and ceruloplasmin metabolism in the LEC rat, an animal model for Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 203, doi. 10.1023/A:1005335231153

By:

Kodama, H.;
Murata, Y.;
Mochizuki, Y.D.;
Abe, Y.T.

Publication type:

Article

Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 199, doi. 10.1023/A:1005383114315

By:

Murata, Y.;
Kodama, H.;
Mori, Y.;
Kobayashi, M.;
Abe, T.

Publication type:

Article

Investigation of the copper binding sites in the Menkes disease protein, ATP7A.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 195, doi. 10.1023/A:1005331130245

By:

Jensen, P.;
Bonander, N.;
Karlsson, B.;
Horn, N.;
Tümer, Z.;
Farver, O.

Publication type:

Article

Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 191, doi. 10.1023/A:1005379013406

By:

Santer, R.;
Schneppenheim, R.;
Dombrowski, A.;
Götze, H.;
Steinmann, B.;
Schaub, J.

Publication type:

Article

Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 186, doi. 10.1023/A:1005351129336

By:

Kerckaert, I.;
De Koning, T.;
Poll-The, B.;
Roels, F.

Publication type:

Article

Preface.

Published in:: Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 185, doi. 10.1023/A:1017145601370
Publication type:: Article