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