Works matching IS 01418955 AND DT 2005 AND VI 28 AND IP 5

Results: 28

Erratum.

Published in:

2005

By:

Cordero, D.;
Baker, J.;
Dorinzi, D.;
Toffle, R.

Publication type:

Correction Notice

Living with phenylketonuria: Perspectives of patients and their families.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 639, doi. 10.1007/s10545-005-4478-8

By:

Bilginsoy, C.;
Waitzman, N.;
Leonard, C.;
Ernst, S.

Publication type:

Article

Dihydropyrimidine dehydrogenase deficiency presenting at birth.

Published in:

2005

By:

Al-Sanna’a, N.;
Kuilenburg, A.;
Atrak, T.;
Jabbar, M.;
Gennip, A.

Publication type:

Report

Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 689, doi. 10.1007/s10545-005-0071-4

By:

Plecko, B.;
Hoeger, H.;
Jakobs, C.;
Struys, E.;
Stromberger, C.;
Leschnik, M.;
Muehl, A.;
Stoeckler-Ipsiroglu, S.

Publication type:

Article

The ratio of α-galactosidase to β-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

Published in:

2005

By:

Lukacs, Z.;
Keil, A.;
Kohlschütter, A.;
Beck, M.;
Mengel, E.

Publication type:

Report

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 651, doi. 10.1007/s10545-005-0033-x

By:

Hove, J.;
Kerckhove, K.;
Hennermann, J.;
Mahieu, V.;
Declercq, P.;
Mertens, S.;
Becker, M.;
Kishnani, P.;
Jaeken, J.

Publication type:

Article

Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 723, doi. 10.1007/s10545-005-0032-y

By:

Ciana, G.;
Addobbati, R.;
Tamaro, G.;
Leopaldi, A.;
Nevyjel, M.;
Ronfani, L.;
Vidoni, L.;
Pittis, M.;
Bembi, B.

Publication type:

Article

Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Published in:

2005

By:

Wendt, S.;
Whybra, C.;
Kampmann, C.;
Teichmann, E.;
Beck, M.

Publication type:

Report

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 707, doi. 10.1007/s10545-005-0015-z

By:

Spaapen, L.;
Bakker, J.;
Meer, S.;
Sijstermans, H.;
Steet, R.;
Wevers, R.;
Jaeken, J.

Publication type:

Article

High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 715, doi. 10.1007/s10545-005-0003-3

By:

Hauser, A.;
Gessl, A.;
Lorenz, M.;
Voigtländer, T.;
Födinger, M.;
Sunder-Plassmann, G.

Publication type:

Article

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 673, doi. 10.1007/s10545-005-0074-1

By:

Cleary, M.;
Dorland, L.;
Koning, T.;
Poll-The, B.;
Duran, M.;
Mandell, R.;
Shih, V.;
Berger, R.;
Olpin, S.;
Besley, G.

Publication type:

Article

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 759, doi. 10.1007/s10545-005-0093-y

By:

Beesley, C.;
Jackson, M.;
Young, E.;
Vellodi, A.;
Winchester, B.

Publication type:

Article

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 743, doi. 10.1007/s10545-005-0069-y

By:

Tomatsu, S.;
Gutierrez, M.;
Ishimaru, T.;
Peña, O.;
Montaño, A.;
Maeda, H.;
Velez-Castrillon, S.;
Nishioka, T.;
Fachel, A.;
Cooper, A.;
Thornley, M.;
Wraith, E.;
Barrera, L.;
Laybauer, L.;
Giugliani, R.;
Schwartz, I.;
Frenking, G.;
Beck, M.;
Kircher, S.;
Paschke, E.

Publication type:

Article

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 681, doi. 10.1007/s10545-005-0084-z

By:

Ihara, K.;
Miyako, K.;
Ishimura, M.;
Kuromaru, R.;
Wang, H.-Y.;
Yasuda, K.;
Hara, T.

Publication type:

Article

Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 695, doi. 10.1007/s10545-005-0090-1

By:

Saunders, A.;
Feldman, H.;
Correia, C.;
Weinstein, D.

Publication type:

Article

Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 779, doi. 10.1007/s10545-005-0092-z

By:

Allen, K.;
Whatley, S.;
Degg, T.;
Barth, J.

Publication type:

Article

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 703, doi. 10.1007/s10545-005-0095-9

By:

Morava, E.;
Wortmann, S.;
Essen, H.;
Sambeek, R.;
Wevers, R.;
Diggelen, O.

Publication type:

Article

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 733, doi. 10.1007/s10545-005-0105-y

By:

Diggelen, O.;
Voznyi, Ya.;
Keulemans, J.;
Schoonderwoerd, K.;
Ledvinova, J.;
Mengel, E.;
Zschiesche, M.;
Santer, R.;
Harzer, K.

Publication type:

Article

Fumarase deficiency presenting with periventricular cysts.

Published in:

2005

By:

Loeffen, J.;
Smeets, R.;
Voit, T.;
Hoffmann, G.;
Smeitink, J.

Publication type:

Report

New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family.

Published in:

2005

By:

Repiso, A.;
Corrons, J.;
Vulliamy, T.;
Killeen, N.;
Layton, M.;
Carreras, J.;
Climent, F.

Publication type:

Report

Bone marrow transplantation correcting β-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis.

Published in:

2005

By:

Shield, J.;
Stone, J.;
Steward, C.

Publication type:

Report

A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD).

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 665, doi. 10.1007/s10545-005-0061-6

By:

Hallam, P.;
Lilburn, M.;
Lee, P.

Publication type:

Article

Successful pregnancy in a treated patient with biotinidase deficiency.

Published in:

2005

By:

Hendriksz, C.;
Preece, M.;
Chakrapani, A.

Publication type:

Report

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Published in:

2005

By:

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

Publication type:

Report

Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 789, doi. 10.1007/s10545-005-0048-3

By:

Kato, Y.;
Ihara, K.;
Miyako, K.;
Kuhara, T.;
Inoue, Y.;
Hara, T.

Publication type:

Article

Body composition in young adults with inborn errors of protein metabolism—A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 613, doi. 10.1007/s10545-005-0036-7

By:

Wilcox, G.;
Strauss, B.;
Francis, D.;
Upton, H.;
Boneh, A.

Publication type:

Article

mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 769, doi. 10.1007/s10545-005-0023-z

By:

Goios, A.;
Nogueira, C.;
Pereira, C.;
Vilarinho, L.;
Amorim, A.;
Pereira, L.

Publication type:

Article

Behavioural factors related to metabolic control in patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 627, doi. 10.1007/s10545-005-0014-0

By:

Crone, M.;
Spronsen, F.;
Oudshoorn, K.;
Bekhof, J.;
Rijn, G.;
Verkerk, P.

Publication type:

Article