Works matching IS 01418955 AND DT 2004 AND VI 27 AND IP 5

Results: 22

Erratum.

Published in:: 2004
Publication type:: Correction Notice

A simple and rapid enzymatic assay for the branched-chain α-ketoacid dehydrogenase complex using high-performance liquid chromatography.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 633, doi. 10.1023/B:BOLI.0000042988.31581.ed

By:

Tajima, G.;
Yofune, H.;
Bahagia Febriani, A.;
Nishimura, Y.;
Ono, H.;
Sakura, N.

Publication type:

Article

Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 621, doi. 10.1023/B:BOLI.0000042987.43395.c6

By:

Trioche, P.;
Petit, F.;
Francoual, J.;
Gajdos, V.;
Capel, L.;
Poüs, C.;
Labrune, P.

Publication type:

Article

Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: Case presentation and review of the literature.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 693, doi. 10.1023/B:BOLI.0000043028.97292.70

By:

DiDomenico, P.;
Berry, G.;
Bass, D.;
Fridge, J.;
Sarwal, M.

Publication type:

Article

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 671, doi. 10.1023/B:BOLI.0000042986.10291.e9

By:

Olsen, R.;
Pourfarzam, M.;
Morris, A.;
Dias, R.;
Knudsen, I.;
Andresen, B.;
Gregersen, N.;
Olpin, S.

Publication type:

Article

Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 687, doi. 10.1023/B:BOLI.0000043027.80328.75

By:

Hanna, R.;
McDonald, M.;
Sullivan, J.;
Mackey, J.;
Krishnamurthy, V.;
Kishnani, P.

Publication type:

Article

Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 549, doi. 10.1023/B:BOLI.0000042985.02049.ff

By:

Brumm, V.;
Azen, C.;
Moats, R.;
Stern, A.;
Broomand, C.;
Nelson, M.;
Koch, R.

Publication type:

Article

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 591, doi. 10.1023/B:BOLI.0000042984.42433.d8

By:

García-Silva, M.;
Matthijs, G.;
Schollen, E.;
Cabrera, J.;
del Pozo, J.;
Herreros, M.;
Simón, R.;
Maties, M.;
Hernández, E.;
Hennet, T.;
Briones, P.

Publication type:

Article

Gaucher disease: Variability in phenotype among siblings.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 659, doi. 10.1023/B:BOLI.0000042983.60840.f3

By:

Amato, D.;
Stachiw, T.;
Clarke, J.;
Rivard, G.

Publication type:

Article

The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 705, doi. 10.1023/B:BOLI.0000043025.17721.fc

By:

Michelakakis, H.;
Dimitriou, E.;
Labadaridis, I.

Publication type:

Article

Improvement of CDG diagnosis by combined examination of several glycoproteins.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 581, doi. 10.1023/B:BOLI.0000042982.82131.a4

By:

Fang, J.;
Peters, V.;
Körner, C.;
Hoffmann, G.

Publication type:

Article

Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 567, doi. 10.1023/B:BOLI.0000042981.52186.a9

By:

Kumps, A.;
Vamos, E.;
Mardens, Y.;
Abramowicz, M.;
Genin, J.;
Duez, P.

Publication type:

Article

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 609, doi. 10.1023/B:BOLI.0000042980.45692.bb

By:

Giuffrè, B.;
Parini, R.;
Rizzuti, T.;
Morandi, L.;
van Diggelen, O.;
Bruno, C.;
Giuffrè, M.

Publication type:

Article

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 679, doi. 10.1023/B:BOLI.0000042979.42120.55

By:

Stoler, J.;
Sabry, M.;
Hanley, C.;
Hoppel, C.;
Shih, V.

Publication type:

Article

Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 707, doi. 10.1023/B:BOLI.0000043024.08450.0c

By:

Kuster, T.;
Torresani, T.;
Kleinert, P.;
Durka, S.;
Neuheiser, F.;
Heizmann, C.;
Troxler, H.

Publication type:

Article

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 649, doi. 10.1023/B:BOLI.0000042959.44318.7c

By:

Schueler, U.;
Kolter, T.;
Kaneski, C.;
Zirzow, G.;
Sandhoff, K.;
Brady, R.

Publication type:

Article

Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann–Pick A disease.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 641, doi. 10.1023/B:BOLI.0000042958.22066.6c

By:

Buccoliero, R.;
Ginzburg, L.;
Futerman>, A.

Publication type:

Article

The impact of galactosaemia on quality of life—A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 601, doi. 10.1023/B:BOLI.0000042957.98782.e4

By:

Lambert, C.;
Boneh, A.

Publication type:

Article

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 691, doi. 10.1023/B:BOLI.0000043023.57321.18

By:

Longo, N.;
Fukao, T.;
Singh, R.;
Pasquali, M.;
Barrios, R.;
Kondo, N.;
Gibson, K.

Publication type:

Article

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 700, doi. 10.1023/B:BOLI.0000043017.90837.93

By:

Thauvin-Robinet, C.;
Faivre, L.;
Barbier, M.;
Chevret, L.;
Bourgeois, J.;
Netter, J.;
Grimaldi, M.;
Geneviève, D.;
Ogier de Baulny, H.;
Huet, F.;
Saudubray, J.;
Gouyon, J.

Publication type:

Article

Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 625, doi. 10.1023/B:BOLI.0000042936.20691.ad

By:

Schneider-Yin, X.;
Hergersberg, M.;
Schuurmans, M.;
Gregor, A.;
Minder, E.

Publication type:

Article

Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 685, doi. 10.1023/B:BOLI.0000043014.21530.9f

By:

Hendriksz, C.;
Moss, G.;
Wraith, J.

Publication type:

Article