Works matching IS 01418955 AND DT 2002 AND VI 25

Results: 90

Phenylketonuria–Present Knowledge and Future Challenges.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 605, doi. 10.1023/A:1022059811203
Publication type:: Article

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 603, doi. 10.1023/A:1022007827133

By:

Fairbanks, L.;
Marinaki, A.;
Carrey, E.;
Hammans, S.;
Duley, J.

Publication type:

Article

G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 601, doi. 10.1023/A:1022055710295

By:

Orimo, H.;
Shin, Y.;
Shimada, T.

Publication type:

Article

Newborn screening compared to clinical identification of biochemical genetic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 599, doi. 10.1023/A:1022003726224

By:

Waisbren, S.;
Read, C.;
Ampola, M.;
Brewster, T.;
Demmer, L.;
Greenstein, R.;
Ingham, C.;
Korson, M.;
Msall, M.;
Pueschel, S.;
Seashore, M.;
Shih, E.;
Levy, H.

Publication type:

Article

Contributions to the MODY5 phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 597, doi. 10.1023/A:1022051609386

By:

Søvik, O.;
Sagen, J.;
Njølstad, P.;
Nyland, H.;
Myhr, K.-M.

Publication type:

Article

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 593, doi. 10.1023/A:1022099425316

By:

Chien, Y.-H.;
Chu, S.-Y.;
Hsu, C.-C.;
Hwu, W.-L.

Publication type:

Article

Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 585, doi. 10.1023/A:1022047408477

By:

Muramatsu, T.;
Sakai, N.;
Yanagihara, I.;
Yamada, M.;
Nishigaki, T.;
Kokubu, C.;
Tsukamoto, H.;
Ito, M.;
Inui, K.

Publication type:

Article

Glutathione synthetase deficiency: Is γ-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 577, doi. 10.1023/A:1022095324407

By:

Ristoff, E.;
Hebert, C.;
Njålsson, R.;
Norgren, S.;
Rooyackers, O.;
Larsson, A.

Publication type:

Article

Simple method for detection of mutations causing hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 571, doi. 10.1023/A:1022043307569

By:

Kullberg-Lindh, C.;
Hannoun, C.;
Lindh, M.

Publication type:

Article

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 557, doi. 10.1023/A:1022091223498

By:

Zeng, B.;
Wang, Z.;
Ribeiro, L.;
Leone, P.;
De Gasperi, R.;
Kim, S.;
Raghavan, S.;
Ong, E.;
Pastores, G.;
Kolodny, E.

Publication type:

Article

Glucose-free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 547, doi. 10.1023/A:1022039206660

By:

Renaud, D.;
Edwards, V.;
Wilson, G.;
Tein, I.

Publication type:

Article

Emergency management of inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 531, doi. 10.1023/A:1022040422590

By:

Prietsch, V.;
Lindner, M.;
Zschocke, J.;
Nyhan, W.;
Hoffmann, G.

Publication type:

Article

A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 525, doi. 10.1023/A:1021280007739

By:

Yamato, O.;
Endoh, D.;
Kobayashi, A.;
Masuoka, Y.;
Yonemura, M.;
Hatakeyama, A.;
Satoh, H.;
Tajima, M.;
Yamasaki, M.;
Maede, Y.

Publication type:

Article

Mutation screening for tyrosinaemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 523, doi. 10.1023/A:1021275923668

By:

Heath, S.;
Gray, R.;
McKiernan, P.;
Au, K.;
Walker, E.;
Green, A.

Publication type:

Article

Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 522, doi. 10.1023/A:1021223922760

By:

Brune, T.;
Lambrecht, A.;
Koch, H.

Publication type:

Article

Selective screening of amino acid disorders in the south-west of Iran, Shiraz.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 519, doi. 10.1023/A:1021219805921

By:

Golbahar, J.;
Karamizadeh, Z.;
Honardar, Z.

Publication type:

Article

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 517, doi. 10.1023/A:1021215605013

By:

Aligianis, I.;
Farndon, P.;
Gray, R.;
Heath, S.;
Kilby, M.;
Gibson, K.;
Akaboshi, S.

Publication type:

Article

Ramipril treatment in a patient with glycogen storage disease I non-A.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 515, doi. 10.1023/A:1021263504104

By:

Giannì, M.;
Bonvissuto, M.;
Gallieni, M.;
Testolin, C.;
Racchi, E.;
Riva, E.

Publication type:

Article

Mutations in the sterol 27-hydoxylase gene ( CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 501, doi. 10.1023/A:1021211520034

By:

Clayton, P.;
Verrips, A.;
Sistermans, E.;
Mann, A.;
Mieli-Vergani, G.;
Wevers, R.

Publication type:

Article

Niemann–Pick disease type C in adults.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 491, doi. 10.1023/A:1021259403196

By:

Imrie, J.;
Vijayaraghaven, S.;
Whitehouse, C.;
Harris, S.;
Heptinstall, L.;
Church, H.;
Cooper, A.;
Besley, G.;
Wraith, J.

Publication type:

Article

Glutaric aciduria type III: A distinctive non-disease?

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 483, doi. 10.1023/A:1021207419125

By:

Knerr, I.;
Zschocke, J.;
Trautmann, U.;
Dorland, L.;
de Koning, T.;
Müller, P.;
Christensen, E.;
Trefz, F.;
Wündisch, G.;
Rascher, W.;
Hoffmann, G.

Publication type:

Article

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 477, doi. 10.1023/A:1021251202287

By:

Olpin, S.;
Pollitt, R.;
Mcmenamin, J.;
Manning, N.;
Besley, G.;
Ruiter, J.;
Wanders, R.

Publication type:

Article

CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 461, doi. 10.1023/A:1021299117308

By:

Zavaď'áková, P.;
Fowler, B.;
Zeman, J.;
Suormala, T.;
Pšistoupilová, K.;
Kožich, V.

Publication type:

Article

Introduction of a ketogenic diet in young infants.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 449, doi. 10.1023/A:1021238900470

By:

Klepper, J.;
Leiendecker, B.;
Bredahl, R.;
Athanassopoulos, S.;
Heinen, F.;
Gertsen, E.;
Flörcken, A.;
Metz, A.;
Voit, T.

Publication type:

Article

Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 437, doi. 10.1023/A:1021286714582

By:

Potter, S.;
Lu, A.;
Wilcken, B.;
Green, K.;
Rasko, J.

Publication type:

Article

Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 431, doi. 10.1023/A:1021234730512

By:

Weglage, J.;
Wiedermann, D.;
Denecke, J.;
Feldmann, R.;
Koch, H.-G.;
Ullrich, K.;
Möller, H.

Publication type:

Article

Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 419, doi. 10.1023/A:1021205713674

By:

Huijbregts, S.;
De Sonneville, L.;
Licht, R.;
Van Spronsen, F.;
Sergeant, J.

Publication type:

Article

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 514, doi. 10.1023/A:1021263532425
Publication type:: Article

A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 415, doi. 10.1023/A:1020116220624

By:

Ip, P.;
HGoh, W.;
Chan, K.;
Cheung, P.

Publication type:

Article

Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 413, doi. 10.1023/A:1020164103786

By:

Raupp, P.;
Keenan, C.;
Dowman, M.;
Nath, R.;
Hertecant, J.

Publication type:

Article

Cytochrome oxidase deficiency in Lowe syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 411, doi. 10.1023/A:1020112119716

By:

Cifelli, P.;
Hargreaves, I.;
Grünewald, S.

Publication type:

Article

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 399, doi. 10.1023/A:1020108002877

By:

Kleijer, W.;
Garritsen, V.;
Linnebank, M.;
Mooyer, P.;
Huijmans, J.;
Mustonen, A.;
Simola, K.;
Arslan-Kirchner, M.;
Battini, R.;
Briones, P.;
Cardo, E.;
Mandel, H.;
Tschiedel, E.;
Wanders, R.;
Koch, H.

Publication type:

Article

Pamidronate treatment improves bone mineral density in children with Menkes disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 391, doi. 10.1023/A:1020103901969

By:

Kanumakala, S.;
Boneh, A.;
Zacharin, M.

Publication type:

Article

Identification of novel mutations in the NPC1 gene in German patients with Niemann–Pick C disease.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 385, doi. 10.1023/A:1020151801060

By:

Kaminski, W.;
Klünemann, H.;
Ibach, B.;
Aslanidis, C.;
Klein, H.;
Schmitz, G.

Publication type:

Article

A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 379, doi. 10.1023/A:1020147716990

By:

Odièvre, M.;
Lombès, A.;
Dessemme, P.;
Santer, R.;
Brivet, M.;
Chevallier, B.;
Lagardère, B.

Publication type:

Article

Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome- c oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 371, doi. 10.1023/A:1020195616081

By:

Lev, D.;
Gilad, E.;
Leshinsky-Silver, E.;
Houri, S.;
Levine, A.;
Saada, A.;
Lerman-Sagie, T.

Publication type:

Article

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 363, doi. 10.1023/A:1020143632011

By:

Rahbeeni, Z.;
Vaz, F.;
Al-Hussein, K.;
Bucknall, M.;
Ruiter, J.;
Wanders, R.;
Rashed, M.

Publication type:

Article

Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 347, doi. 10.1023/A:1020191515173

By:

Yannicelli, S.;
Medeiros, D.

Publication type:

Article

Phenylketonuria in adulthood: A collaborative study.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 333, doi. 10.1023/A:1020158631102

By:

Koch, R.;
Burton, B.;
Hoganson, G.;
Peterson, R.;
Rhead, W.;
Rouse, B.;
Scott, R.;
Wolff, J.;
Stern, A.;
Guttler, F.;
Nelson, M.;
de la Cruz, F.;
Coldwell, J.;
Erbe, R.;
Geraghty, M.;
Shear, C.;
Thomas, J.;
Azen, C.

Publication type:

Article

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 268, doi. 10.1023/A:1016575029687
Publication type:: Article

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 328, doi. 10.1023/A:1016522912849

By:

Funghini, S.;
Donati, M.A.;
Pasquini, E.;
Gasperini, S.;
Ciani, F.;
Morrone, A.;
Zammarchi, E.

Publication type:

Article

A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 325, doi. 10.1023/A:1016570828778

By:

Benelli, C.;
Fouque, F.;
Redonnet-Vernhet, I.;
Malgat, M.;
Fontan, D.;
Marsac, C.;
Dey, R.

Publication type:

Article

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 323, doi. 10.1023/A:1016518811940

By:

Horvath, J.;
Horvath, R.;
Karcagi, V.;
Komoly, S.;
Johns, D.

Publication type:

Article

Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 321, doi. 10.1023/A:1016514727870

By:

Weglage, J.;
Grenzebach, M.;
Teeffelen-Heithoff, A.;
Marquardt, T.;
Feldmann, R.;
Denecke, J.;
Gödde, D.;
Koch, H.

Publication type:

Article

Sandhoff disease in a golden retriever dog.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 319, doi. 10.1023/A:1016562626961

By:

Yamato, O.;
Matsuki, N.;
Satoh, H.;
Inaba, M.;
Ono, K.;
Yamasaki, M.;
Maede, Y.

Publication type:

Article

Pregnancy and tyrosinaemia type II.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 317, doi. 10.1023/A:1016558510123

By:

Cerone, R.;
Fantasia, A.;
Castellano, E.;
Moresco, L.;
Schiaffino, M.;
Gatti, R.

Publication type:

Article

Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 316, doi. 10.1023/A:1016554409214

By:

Boles, R.

Publication type:

Article

Reproductive fitness in maternal homocystinuria due to cystathionine β-synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 299, doi. 10.1023/A:1016502408305

By:

Levy, H.;
Vargas, J.;
Waisbren, S.;
Kurczynski, T.;
Roeder, E.;
Schwartz, R.;
Rosengren, S.;
Prasad, C.;
Greenberg, C.;
Gilfix, B.;
MacGregor, D.;
Shih, V.;
Bao, L.;
Kraus, J.

Publication type:

Article

Neurotransmitter metabolites in CSF: An external quality control scheme.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 287, doi. 10.1023/A:1016550324235

By:

Bräutigam, C.;
Weykamp, C.;
Hoffmann, G.;
Wevers, R.

Publication type:

Article

A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.

Published in:

Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 279, doi. 10.1023/A:1016598207397

By:

Gross, U.;
Puy, H.;
Meissauer, U.;
Lamoril, J.;
Deybach, J.;
Doss, M.;
Nordmann, Y.

Publication type:

Article