Works matching IS 01418955 AND DT 1999 AND VI 22

Results: 170

Metabolism at a Glance, 2nd Edition. J.G. Salway.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 914, doi. 10.1023/A:1005641407072

By:

Harkness, R.A.

Publication type:

Article

Subject Index to Volume 22.

Published in:: Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 958, doi. 10.1023/A:1017288802140
Publication type:: Article

Author Index to Volume 22.

Published in:: Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 953, doi. 10.1023/A:1017273201231
Publication type:: Article

Atlas of Common Lysosomal and Peroxisomal Disorders. by Mohammed A. Al-Essa, Pinar T. Ozand.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 914, doi. 10.1023/A:1005628500322

By:

Wraith, J.

Publication type:

Article

Towards metabolic sink therapy for mut methylmalonic acidaemia: Retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 951, doi. 10.1023/A:1005624415344

By:

Chang, Chin-Chuan;
Hsiao, Kwang-Jen;
Chen, Mao-Liang;
Lin, Chun-Ming

Publication type:

Article

Normal kynurenine metabolism in 2-oxoadipic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 949, doi. 10.1023/A:1005672314435

By:

Sewell, A.;
Herwig, J.;
Böhles, H.;
Abeling, N.;
van Gennip, A.

Publication type:

Article

Analysis of three mutations in Turkish children with Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 947, doi. 10.1023/A:1005668230365

By:

Gürakan, F.;
Terzioğlu, M.;
Koçak, N.;
Yüce, A.;
Özen, H.;
Ciliv, G.;
Emre, S.

Publication type:

Article

Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 946, doi. 10.1023/A:1005616229456

By:

Ellaway, C.;
McQuade, L.;
Christodoulou, J.

Publication type:

Article

Galactosaemia presenting as congenital pseudoafibrinogenaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 943, doi. 10.1023/A:1005660011709

By:

Ruiz, M.;
Jover, S.;
Armas, M.;
Duque, M.;
Santana, C.;
Girós, M.;
Boleda, M.

Publication type:

Article

Urinary excretion of Krebs cycle metabolites in a 13-year-old girl.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 945, doi. 10.1023/A:1005612112618

By:

Zschocke, J.;
Koch, G.;
Hoffmann, G.

Publication type:

Article

Adult carnitine palmitoyltransferase II deficiency: Detection of characteristic carnitine esters in serum by tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 941, doi. 10.1023/A:1005655927639

By:

Gempel, K.;
Kottlors, M.;
Jaksch, M.;
Gerbitz, K.-D.;
Bauer, M.

Publication type:

Article

Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993>G mutation.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 939, doi. 10.1023/A:1005603926730

By:

Martín, M.;
Campos, Y.;
García-Silva, M.;
Rubio, J.;
Del Hoyo, P.;
de Bustos, F.;
García, A.;
Arenas, J.

Publication type:

Article

Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 937, doi. 10.1023/A:1005651809892

By:

Hwu, W.-L.;
Chiang, S.-C.;
Huang, S.-F.;
Chang, M.-H.;
Wen, W.-H.;
Wang, T.-R.

Publication type:

Article

Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 936, doi. 10.1023/A:1005699725822

By:

Neele, D.;
Kneepkens, C.;
Verhoeven, N.;
Jakobs, C.

Publication type:

Article

Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 933, doi. 10.1023/A:1005647608983

By:

Asghar, M.;
Nevin, N.;
Beattie, E.;
McManus, D.;
Roberts, G.;
Phillips, J.

Publication type:

Article

β-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: A frequent disease in Tunisia?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 932, doi. 10.1023/A:1005695524913

By:

Monastiri, K.;
Amri, F.;
Limam, K.;
Kaabachi, N.;
Guediche, M.

Publication type:

Article

Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 925, doi. 10.1023/A:1005643508075

By:

Hargreaves, I.;
Heales, S.;
Land, J.

Publication type:

Article

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 915, doi. 10.1023/A:1005691424004

By:

Quackenbush, E.;
Kraemer, K.;
Gahl, W.;
Schirch, V.;
Whiteman, D.;
Levine, K.;
Levy, H.

Publication type:

Article

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 899, doi. 10.1023/A:1005639407166

By:

White, S.;
Shanske, S.;
McGill, J.;
Mountain, H.;
Geraghty, M.;
DiMauro, S.;
Dahl, H.-H.;
Thorburn, D.

Publication type:

Article

Blood lipids and endothelial function in glycogen storage disease type III.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 891, doi. 10.1023/A:1005687323096

By:

Hershkovitz, E.;
Donald, A.;
Mullen, M.;
Lee, P.;
Leonard, J.

Publication type:

Article

Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 883, doi. 10.1023/A:1005635306257

By:

O'Brien, D.;
Barshop, B.;
Faunt, K.;
Johnson, G.;
Gibson, K.;
Shelton, G.

Publication type:

Article

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 867, doi. 10.1023/A:1005683222187

By:

Baric, I.;
Wagner, L.;
Feyh, P.;
Liesert, M.;
Buckel, W.;
Hoffmann, G.

Publication type:

Article

Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 855, doi. 10.1023/A:1005602405349

By:

Valtonen, M.;
Näntö-Salonen, K.;
Jääskeläinen, S.;
Heinänen, K.;
Alanen, A.;
Heinonen, O.;
Lundbom, N.;
Erkintalo, M.;
Simell, O.

Publication type:

Article

The Neuronal Ceroid Lipofuscinoses (Batten Disease). Edited by H. H. Goebel, S. E. Mole and B. D. Lake.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 853, doi. 10.1023/A:1005615808187

By:

Besley, G.

Publication type:

Article

Mutation analysis of the propionyl-CoA carboxylase α-subunit gene in four Japanese patients with propionic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 851, doi. 10.1023/A:1005578612668

By:

Ohura, T.;
Narisawa, K.;
Iinuma, K.

Publication type:

Article

Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 849, doi. 10.1023/A:1005526628598

By:

Sivakumur, P.;
Wraith, J.

Publication type:

Article

Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 846, doi. 10.1023/A:1005574511759

By:

Al-Essa, M.;
Bakheet, S.;
Patay, Z.;
Powe, J.;
Ozand, P.

Publication type:

Article

Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 845, doi. 10.1023/A:1005522527689

By:

Willers, I.;
Bolz, H.;
Wehnert, M.;
Gal, A.

Publication type:

Article

Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 821, doi. 10.1023/A:1005510224963

By:

Mamer, O.;
Choiniere, L.;
Boismenu, D.;
Lepine, F.

Publication type:

Article

False negative thiosulphate screening test in a case of molybdenum cofactor deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 842, doi. 10.1023/A:1005518426781

By:

Carragher, F.;
Kirk, J.;
Steer, C.;
Allen, J.;
Dorche, C.

Publication type:

Article

A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 844, doi. 10.1023/A:1005570410851

By:

Gort, L.;
Chabás, A.;
Coll, M.

Publication type:

Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 839, doi. 10.1023/A:1005514325872

By:

Thiel, C.;
Baudach, S.;
Schnackenberg, U.;
Vreken, P.;
Wanders, R.

Publication type:

Article

Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 827, doi. 10.1023/A:1005562209034

By:

Melegh, B.;
Seress, L.;
Bedekovics, T.;
Kispál, G.;
Sümegi, B.;
Trombitás, K.;
Méhes, K.

Publication type:

Article

Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 840, doi. 10.1023/A:1005566309942

By:

Carpenter, K.;
Wilcken, B.

Publication type:

Article

Urinary organic acid screening in children with developmental language delay.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 815, doi. 10.1023/A:1005558108125

By:

Michelson, M.;
Harel, S.;
Gutman, A.;
Lerman-Sagie, T.

Publication type:

Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 811, doi. 10.1023/A:1005506024055

By:

Ibdah, J.;
Dasouki, M.;
Strauss, A.

Publication type:

Article

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 802, doi. 10.1023/A:1005553907216

By:

Merinero, B.;
Pascual Pascual, S.;
Pérez-Cerdá, C.;
Gangoiti, J.;
Castro, M.;
Garcia, M.;
Pascual Castroviejo, I.;
Vianey-Saban, C.;
Andresen, B.;
Gregersen, N.;
Ugarte, M.

Publication type:

Article

Nutritional deficiencies in a patient with glycogen storage disease type Ib.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 795, doi. 10.1023/A:1005549823146

By:

Kishnani, P.;
Boney, A.;
Chen, Y.-T.

Publication type:

Article

Successful pregnancy in severe methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 788, doi. 10.1023/A:1005597722237

By:

Wasserstein, M.;
Gaddipati, S.;
Snyderman, S.;
Eddleman, K.;
Desnick, R.;
Sansaricq, C.

Publication type:

Article

Towards metabolic sink therapy for mut methylmalonic acidaemia: Correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 773, doi. 10.1023/A:1005593605399

By:

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

Publication type:

Article

Transcobalamin II deficiency with methylmalonic aciduria in three sisters.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 765, doi. 10.1023/A:1005507204491

By:

Bibi, H.;
Gelman-Kohan, Z.;
Baumgartner, E.;
Rosenblatt, D.

Publication type:

Article

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 762, doi. 10.1023/A:1005572906807

By:

Hadjigeorgiou, G.;
Comi, G.;
Bordoni, A.;
Shen, J.;
Chen, Y.-T.;
Salani, S.;
Toscano, A.;
Fortunato, F.;
Lucchiari, S.;
Bresolin, N.;
Rodolico, C.;
Piscaglia, M.;
Franceschina, L.;
Papadimitriou, A.;
Scarlato, G.

Publication type:

Article

The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 760, doi. 10.1023/A:1005520922737

By:

Gray, R.;
Green, S.;
Davies, P.;
Alger, S.;
Green, A.

Publication type:

Article

Generalized glutathione synthetase deficiency and pregnancy.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 758, doi. 10.1023/A:1005564705898

By:

Ristoff, E.;
Augustson, C.;
Larsson, A.

Publication type:

Article

Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 756, doi. 10.1023/A:1005508620919

By:

Augoustides-Savvopoulou, P.;
Mylonas, I.;
Sewell, A.;
Rosenblatt, D.

Publication type:

Article

Spontaneous pregnancy in a patient with classical galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 754, doi. 10.1023/A:1005504403173

By:

de Jongh, S.;
Vreken, P.;
IJlst, L.;
Wanders, R.;
Jakobs, C.;
Bakker, H.

Publication type:

Article

Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 747, doi. 10.1023/A:1005552302264

By:

Kimura, T.;
Akaba, K.;
Ikegami, T.;
Akiba, K.;
Kanazawa, C.;
Katsuura, M.;
Shimizu, Y.;
Imaizumi, M.;
Lin, C.;
Hayasaka, K.

Publication type:

Article

A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 740, doi. 10.1023/A:1005500318194

By:

Seargeant, L.;
Balachandra, K.;
Mallory, C.;
Dilling, L.;
Greenberg, C.

Publication type:

Article

Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355

By:

Parini, R.;
Invernizzi, F.;
Menni, F.;
Garavaglia, B.;
Melotti, D.;
Rimoldi, M.;
Salera, S.;
Tosetto, C.;
Taroni, F.

Publication type:

Article

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 723, doi. 10.1023/A:1005544117285

By:

Faivre, L.;
Houssin, D.;
Valayer, J.;
Brouard, J.;
Hadchouel, M.;
Bernard, O.

Publication type:

Article