Works matching IS 01418955 AND DT 2003 AND VI 26

Results: 98

Subject Index to Volume 26.

Published in:: Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 829, doi. 10.1023/B:BOLI.0000010021.41761.a3
Publication type:: Article

Author Index to Volume 26.

Published in:: Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 825, doi. 10.1023/B:BOLI.0000010020.96912.8a
Publication type:: Article

Glycine N-methyltransferase deficiency: A new patient with a novel mutation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 745, doi. 10.1023/B:BOLI.0000009978.17777.33

By:

Augoustides-Savvopoulou, P.;
Luka, Z.;
Karyda, S.;
Stabler, S.;
Allen, R.;
Patsiaoura, K.;
Wagner, C.;
Mudd, S.

Publication type:

Article

Newborn screening for cystic fibrosis: Science, legislation, and human values.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 725, doi. 10.1023/B:BOLI.0000009975.91855.cc

By:

Pollitt, R.

Publication type:

Article

Letters to the Editor.

Published in:: 2003
Publication type:: Letter

Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 761, doi. 10.1023/B:BOLI.0000009963.88420.c2

By:

Orendáč, M.;
Zeman, J.;
Stabler, S.;
Allen, R.;
Kraus, J.;
Bodamer, O.;
Stöckler-Ipsiroglu, S.;
Kvasnička, J.;
Kožich, V.

Publication type:

Article

Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 819, doi. 10.1023/B:BOLI.0000010006.87571.48

By:

Beccari, T.;
Bibi, L.;
Ricci, R.;
Antuzzi, D.;
Burgalossi, A.;
Costanzi, E.;
Orlacchio, A.

Publication type:

Article

Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial β-oxidation defects.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 795, doi. 10.1023/B:BOLI.0000009951.13315.66

By:

Osorio, J.;
Lluch, M.;
Ribes, A.

Publication type:

Article

Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 775, doi. 10.1023/B:BOLI.0000009950.81514.c8

By:

Victor, S.;
Coulter, J.;
Besley, G.;
Ellis, I.;
Desnick, R.;
Schuchman, E.;
Vellodi, A.

Publication type:

Article

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 805, doi. 10.1023/B:BOLI.0000009949.65855.4c

By:

Wolf, B.;
Freehauf, C.;
Thomas, J.;
Gordon, P.;
Greene, C.;
Ward, J.

Publication type:

Article

Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 787, doi. 10.1023/B:BOLI.0000009948.86528.72

By:

Hajioff, D.;
Enever, Y.;
Quiney, R.;
Zuckerman, J.;
Mackermot, K.;
Mehta, A.

Publication type:

Article

Neonatal screening for cystic fibrosis: France rises to the challenge.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 729, doi. 10.1023/B:BOLI.0000009921.42503.c2

By:

Farriaux, J.;
Vidailhet, M.;
Briard, M.;
Belot, V.;
Dhondt, J.

Publication type:

Article

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 816, doi. 10.1023/B:BOLI.0000010004.12053.5b

By:

Hong, Y.;
Korman, S.;
Lee, J.;
Ghoshal, P.;
Wu, Q.;
Barash, V.;
Kang, S.;
Oh, S.;
Kwon, M.;
Gutman, A.;
Rachmel, A.;
Patel, M.

Publication type:

Article

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 813, doi. 10.1023/B:BOLI.0000010003.14113.af

By:

Budde, S.;
van den Heuvel, L.;
Smeets, R.;
Skladal, D.;
Mayr, J.;
Boelen, C.;
Petruzzella, V.;
Papa, S.;
Smeitink, J.

Publication type:

Article

Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 811, doi. 10.1023/B:BOLI.0000009992.78840.77

By:

Qiu, W.;
Gu, X.;
Ye, J.;
Han, L.Sh.;
Zhang, Y.;
Liu, X.

Publication type:

Article

Instructions to Authors.

Published in:: Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 723, doi. 10.1023/B:BOLI.0000005662.26856.7b
Publication type:: Article

Short Report: Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 715, doi. 10.1023/B:BOLI.0000005661.67240.19

By:

Kimura, M.;
Fukui, T.;
Tagami, Y.;
Fujiwaki, T.;
Yokoyama, M.;
Ishioka, C.;
Kumasaka, K.;
Terada, N.;
Yamaguchi, S.

Publication type:

Article

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 699, doi. 10.1023/B:BOLI.0000005660.88944.2f

By:

Karas, N.;
Gobec, L.;
Pfeifer, V.;
Mlinar, B.;
Battelino, T.;
Lukac-Bajalo, J.

Publication type:

Article

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 659, doi. 10.1023/B:BOLI.0000005659.52200.c1

By:

Gargus, J.;
Boyle, K.;
Bocian, M.;
Roe, D.;
Vianey-Saban, C.;
Roe, C.

Publication type:

Article

Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 617, doi. 10.1023/B:BOLI.0000005658.14563.77

By:

Baehner, F.;
Kampmann, C.;
Whybra, C.;
Miebach, E.;
Wiethoff, C.;
Beck, M.

Publication type:

Article

Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 683, doi. 10.1023/B:BOLI.0000005648.75276.71

By:

Pietz, J.;
Lutz, T.;
Zwygart, K.;
Hoffmann, G.;
Ebinger, F.;
Boesch, C.;
Kreis, R.

Publication type:

Article

Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 720, doi. 10.1023/B:BOLI.0000005647.71704.25

By:

Morava, E.;
Hol, F.;
Janssen, A.;
Smeitink, J.

Publication type:

Article

Case Report: Rhabdomyolysis in Glutaric Aciduria Type I.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 711, doi. 10.1023/B:BOLI.0000005635.89043.8a

By:

Chow, S.;
Rohan, C.;
Morris, A.

Publication type:

Article

Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1α subunit.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 671, doi. 10.1023/B:BOLI.0000005628.16515.01

By:

Wu, Yong-Ge;
Chen, Wen-Yang;
Zhang, Zi-Wei;
Yang, Gui-Zheng;
Li, Wei;
Duggleby, Ronald

Publication type:

Article

A neurological symptom survey of patients with type I Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 641, doi. 10.1023/B:BOLI.0000005623.60471.51

By:

Pastores, G.;
Barnett, N.;
Bathan, P.;
Kolodny, E.

Publication type:

Article

Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 693, doi. 10.1023/B:BOLI.0000005622.89660.59

By:

László, Á.;
Schuler, É.;
Sallay, É.;
Endreffy, E.;
Somogyi, Cs.;
Várkonyi, Á.;
Havass, Z.;
Jansen, K.;
Wolf, B.

Publication type:

Article

A model of neuronopathic Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 629, doi. 10.1023/B:BOLI.0000005619.14180.5c

By:

Campbell, P.;
Harris, C.;
Sirimanna, T.;
Vellodi, A.

Publication type:

Article

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 675, doi. 10.1023/B:BOLI.0000005618.76542.ed

By:

Bembi, B.;
Ciana, G.;
Martini, C.;
Benettoni, A.;
Gombacci, A.;
Deganuto, M.;
Pittis, M.

Publication type:

Article

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 647, doi. 10.1023/B:BOLI.0000005605.57420.b4

By:

Niers, L.;
Heuvel, L.;
Trijbels, F.;
Sengers, R.;
Smeitink, J.

Publication type:

Article

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 713, doi. 10.1023/B:BOLI.0000005604.90621.e2

By:

Mühlhausen, C.;
Christensen, E.;
Schwartz, M.;
Muschol, N.;
Ullrich, K.;
Lukacs, Z.

Publication type:

Article

Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 7, p. 705, doi. 10.1023/B:BOLI.0000005603.04633.21

By:

Law, L.;
Tang, N.;
Hui, J.;
Lam, C.;
Fok, T.

Publication type:

Article

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 613, doi. 10.1023/A:1025968502527

By:

Spiekerkoetter, U.;
Huener, G.;
Baykal, T.;
Demirkol, M.;
Duran, M.;
Wanders, R.;
Nezu, J.;
Mayatepek, E.

Publication type:

Article

Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 611, doi. 10.1023/A:1025916518457

By:

Vercammen, L.;
Buyse, G.;
Proost, J.;
Van Hove, J.

Publication type:

Article

Prenatal diagnosis for arginase deficiency: A case study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 607, doi. 10.1023/A:1025964401618

By:

Hewson, S.;
Clarke, J.;
Cederbaum, S.

Publication type:

Article

Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 601, doi. 10.1023/A:1025912417548

By:

Häberle, J.;
Denecke, J.;
Schmidt, E.;
Koch, H.

Publication type:

Article

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 593, doi. 10.1023/A:1025960300710

By:

Grafakou, O.;
Hol, F.;
Otfried Schwab, K.;
Siers, M.;
Ter Laak, H.;
Trijbels, F.;
Ensenauer, R.;
Boelen, C.;
Smeitink, J.

Publication type:

Article

Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 583, doi. 10.1023/A:1025908216639

By:

Muth, A.;
Mosandl, A.;
Wanders, R.;
Nowaczyk, M.;
Baric, I.;
Böhles, H.;
Sewell, A.

Publication type:

Article

Towards quality assurance in the determination of lysosomal enzymes: A two-centre study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 571, doi. 10.1023/A:1025904132569

By:

Lukacs, Z.;
Keil, A.;
Peters, V.;
Kohlschütter, A.;
Hoffmann, G.;
Cantz, M.;
Kopitz, J.

Publication type:

Article

A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 565, doi. 10.1023/A:1025952031660

By:

Gross, U.;
Gerlach, R.;
Kühnel, A.;
Seifert, V.;
Doss, M.

Publication type:

Article

GLUT-1 deficiency without epilepsy—an exceptional case.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 559, doi. 10.1023/A:1025999914822

By:

Overweg-Plandsoen, W.;
Groener, J.;
Wang, D.;
Onkenhout, W.;
Brouwer, O.;
Bakker, H.;
De Vivo, D.

Publication type:

Article

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 543, doi. 10.1023/A:1025947930752

By:

Olpin, S.;
Afifi, A.;
Clark, S.;
Manning, N.;
Bonham, J.;
Dalton, A.;
Leonard, J.;
Land, J.;
Andresen, B.;
Morris, A.;
Muntoni, F.;
Turnbull, D.;
Pourfarzam, M.;
Rahman, S.;
Pollitt, R.

Publication type:

Article

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 537, doi. 10.1023/A:1025995813914

By:

Lundy, C.;
Shield, J.;
Kvittingen, E.;
Vinorum, O.;
Trimble, E.;
Morris, A.

Publication type:

Article

Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 527, doi. 10.1023/A:1025943829843

By:

Chan, A.;
Bhargava, R.;
Desai, S.;
Joffe, A.

Publication type:

Article

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005

By:

Cox, T.;
Aerts, J.;
Andria, G.;
Beck, M.;
Belmatoug, N.;
Bembi, B.;
Chertkoff, R.;
Vom Dahl, S.;
Elstein, D.;
Erikson, A.;
Giralt, M.;
Heitner, R.;
Hollak, C.;
Hrebicek, M.;
Lewis, S.;
Mehta, A.;
Pastores, G.;
Rolfs, A.;
Sa Miranda, M.;
Zimran, A.

Publication type:

Article

Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 507, doi. 10.1023/A:1025133629685

By:

Vives-Bauza, C.;
Del Toro, M.;
Solano, A.;
Montoya, J.;
Andreu, A.;
Roig, M.

Publication type:

Article

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 505, doi. 10.1023/A:1025181512847

By:

Hargreaves, I.;
Heales, S.;
Briddon, A.;
Lee, P.;
Hanna, M.;
Land, J.

Publication type:

Article

Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T).

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 509, doi. 10.1023/A:1025129528777

By:

Linnebank, M.;
Junker, R.;
Nabavi, D.;
Linnebank, A.;
Koch, H.

Publication type:

Article

A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-α-D-glucosaminidase deficiency in Schipperke dogs.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 489, doi. 10.1023/A:1025177411938

By:

Ellinwood, N.;
Wang, P.;
Skeen, T.;
Sharp, N.;
Cesta, M.;
Decker, S.;
Edwards, N.;
Bublot, I.;
Thompson, J.;
Bush, W.;
Hardam, E.;
Haskins, M.;
Giger, U.

Publication type:

Article

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 481, doi. 10.1023/A:1025125427868

By:

Yano, S.;
Li, L.;
Le, T.;
Moseley, K.;
Guedalia, A.;
Lee, J.;
Gonzalez, I.;
Boles, R.

Publication type:

Article

Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 5, p. 459, doi. 10.1023/A:1025173311030

By:

Schadewaldt, P.;
Killius, S.;
Kamalanathan, L.;
Hammen, H.-W.;
Straßburger, K.;
Wendel, U.

Publication type:

Article