Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 4

Results: 35

The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 434, doi. 10.1023/A:1005628624520

By:

Ito, T.;
van Kuilenburg, A.;
Bootsma, A.;
Haasnoot, A.;
van Cruchten, A.;
Wada, Y.;
van Gennip, A.

Publication type:

Article

Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 421, doi. 10.1023/A:1005672406773

By:

Jansen, G.;
Denis, S.;
Verhoeven, N.;
Jakobs, C.;
Wanders, R.

Publication type:

Article

Smith–Lemli–Opitz syndrome: Molecular-genetic analysis of ten families.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 409, doi. 10.1023/A:1005616321794

By:

Kozák, L.;
Francová, H.;
Hrabincová, E.;
Procházková, D.;
Jüttnerová, V.;
Bzdúch, V.;
Šimek, P.

Publication type:

Article

Carbohydrate-deficient glycoprotein syndrome: Beyond the screen.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 396, doi. 10.1023/A:1005660004047

By:

Fletcher, J.;
Matthijs, G.;
Jaeken, J.;
Van Schaftingen, E.;
Nelson, P.V.

Publication type:

Article

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 429, doi. 10.1023/A:1005676507682

By:

Vreken, P.;
Valianpour, F.;
Overmars, H.;
Barth, P.;
Selhorst, J.;
van Gennip, A.;
Wanders, R.

Publication type:

Article

Characteristic urine organic acid profile in peroxisomal biogenesis disorders.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 425, doi. 10.1023/A:1005624523611

By:

Korman, S.;
Mandel, H.;
Gutman, A.

Publication type:

Article

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 399, doi. 10.1023/A:1005612120886

By:

Knopf, C.;
Rod, R.;
Jaeken, J.;
Berant, M.;
Van Schaftingen, E.;
Fryns, J.;
Brill-Zamir, R.;
Gershoni-Baruch, R.;
Lischinsky, S.;
Mandel, H.

Publication type:

Article

Carbohydrate-deficient glycoprotein syndromes: The Italian experience.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 391, doi. 10.1023/A:1005608019977

By:

Di Rocco, M.;
Barone, R.;
Adami, A.;
Burlina, A.;
Carrozzi, M.;
Dionisi-Vici, C.;
Gatti, R.;
Iannetti, P.;
Parini, R.;
Raucci, U.;
Roccella, M.;
Spada, M.;
Fiumara, A.

Publication type:

Article

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 383, doi. 10.1023/A:1005699719068

By:

Shin, Y.;
Korenke, G.-C.;
Huppke, P.;
Knerr, I.;
Podskarbi, T.

Publication type:

Article

Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 416, doi. 10.1023/A:1005620422703

By:

Ben-Yaacov, A.;
Minichiello, J.;
Newgreen, D.;
Boneh, A.

Publication type:

Article

Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 413, doi. 10.1023/A:1005668305864

By:

Behúlová, D.;
Bzdúch, V.;
Škodová, J.;
Dello Russo, A.;
Corso, G.;
Ponec, J.;
Kasanická, A.

Publication type:

Article

Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 404, doi. 10.1023/A:1005664204956

By:

Mayatepek, E.;
Zelezny, R.;
Lehmann, W.;
Hammond, J.;
Hoffmann, G.

Publication type:

Article

Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 378, doi. 10.1023/A:1005647701321

By:

Zschocke, J.;
Mayatepek, E.

Publication type:

Article

Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 375, doi. 10.1023/A:1005643617251

By:

Das, A.;
Ullrich, K.;
Isbrandt, D.

Publication type:

Article

Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 371, doi. 10.1023/A:1005639516342

By:

Zeman, J.;
Krijt, J.;
Stratilová, L.;
Hansíková, H.;
Wenchich, L.;
Kmoch, S.;
Chrastina, P.;
Houštěk, J.

Publication type:

Article

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 387, doi. 10.1023/A:1005655903139

By:

Barone, R.;
Giuffrida, G.;
Musso, R.;
Carpinteri, G.;
Fiumara, A.

Publication type:

Article

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 367, doi. 10.1023/A:1005687415434

By:

Houten, S.;
Frenkel, J.;
Kuis, W.;
Wanders, R.;
Poll-The, B.;
Waterham, H.

Publication type:

Article

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 363, doi. 10.1023/A:1005635431364

By:

Poll-The, B.;
Frenkel, J.;
Houten, S.;
Kuis, W.;
Duran, M.;
de Koning, T.;
Dorland, L.;
de Barse, M.;
Romeijn, G.;
Wanders, R.;
Waterham, H.

Publication type:

Article

Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-α.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 359, doi. 10.1023/A:1005683314525

By:

Kölker, S.;
Ahlmeyer, B.;
Krieglstein, J.;
Hoffmann, G.

Publication type:

Article

Methylmalonic acid induces excitotoxic neuronal damage in vitro.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 355, doi. 10.1023/A:1005631230455

By:

Kölker, S.;
Ahlmeyer, B.;
Krieglstein, J.;
Hoffmann, G.

Publication type:

Article

The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 352, doi. 10.1023/A:1005627113617

By:

Hargreaves, I.;
Heales, S.;
Olpin, S.;
Morgan-Hughes, J.;
Land, J.

Publication type:

Article

Oxidative abnormalities in Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 349, doi. 10.1023/A:1005675012708

By:

Rizzo, C.;
Bertini, E.;
Piemonte, F.;
Leuzzi, V.;
Sabetta, G.;
Federici, G.;
Luchetti, A.;
Dionisi-Vici, C.

Publication type:

Article

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 345, doi. 10.1023/A:1005623028638

By:

Vianey-Saban, C.;
Bouvier, R.;
Cochat, P.;
Buenerd, A.;
Divry, P.;
Dumoulin, R.;
Cordier, M.

Publication type:

Article

3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 341, doi. 10.1023/A:1005670911799

By:

Ensenauer, R.;
Müller, C.;
Schwab, K.;
Gibson, K.;
Brandis, M.;
Lehnert, W.

Publication type:

Article

Osteoporosis in late-diagnosed adult homocystinuric patients.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 338, doi. 10.1023/A:1005618927729

By:

Parrot, F.;
Redonnet-Vernhet, I.;
Lacombe, D.;
Gin, H.

Publication type:

Article

Genotype–phenotype correlation in dihydropteridine reductase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 333, doi. 10.1023/A:1005662710891

By:

de Sanctis, L.;
Alliaudi, C.;
Spada, M.;
Farrugia, R.;
Cerone, R.;
Biasucci, G.;
Meli, C.;
Zammarchi, E.;
Coskun, T.;
Blau, N.;
Ponzone, A.;
Dianzani, I.

Publication type:

Article

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 325, doi. 10.1023/A:1005650325003

By:

Abeling, N.;
Bräutigam, C.;
Hoffmann, G.;
Barth, P.;
Wevers, R.;
Jaeken, J.;
Fiumara, A.;
Knust, A.;
van Gennip, A.

Publication type:

Article

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 321, doi. 10.1023/A:1005698223186

By:

Bräutigam, C.;
Wevers, R.;
Hyland, K.;
Sharma, R.;
Knust, A.;
Hoffmann, G.

Publication type:

Article

Derangement of the dopaminergic system in phenylketonuria: Study of the event-related potential (P300).

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 317, doi. 10.1023/A:1005646206348

By:

Leuzzi, V.;
Seri, S.;
Cerquiglini, A.;
Carducci, Cl.;
Carducci, Ca.;
Antonozzi, I.

Publication type:

Article

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 313, doi. 10.1023/A:1005694122277

By:

Burlina, A.;
Bonafé, L.;
Ferrari, V.;
Suppiej, A.;
Zacchello, F.

Publication type:

Article

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 308, doi. 10.1023/A:1005690005439

By:

Linnebank, M.;
Homberger, A.;
Rapp, B.;
Winter, C.;
Marquardt, T.;
Harms, E.;
Koch, H.

Publication type:

Article

Oral lysine feeding in gyrate atrophy with hyperornithinaemia – A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 305, doi. 10.1023/A:1005638004530

By:

Peltola, K.;
Heinonen, O.;
Näntö-Salonen, K.;
Pulkki, K.;
Simell, O.

Publication type:

Article

Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 300, doi. 10.1023/A:1005617420460

By:

Muro, S.;
Pérez, B.;
Rodríguez-Pombo, P.;
Desviat, L.;
Pérez-Cerd´, C.;
Ugarte, M.

Publication type:

Article

Preface.

Published in:: 2000
Publication type:: Editorial

Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 329, doi. 10.1023/A:1005658625912

By:

Schuler, Á.;
Kálmánchey, R.;
Barsi, P.;
Somogyi, C.;
Törös, I.;
Váradi, I.;
Kovács, Á.;
Blau, N.

Publication type:

Article