Works matching IS 01418955 AND DT 2010 AND VI 33 AND IP 2

Results: 10

Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 121, doi. 10.1007/s10545-010-9066-x

By:

Mazer, Laura;
Yi, Sarah;
Singh, Rani

Publication type:

Article

The biochemical basis of hereditary fructose intolerance.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 105, doi. 10.1007/s10545-010-9053-2

By:

Bouteldja, Nadia;
Timson, David

Publication type:

Article

Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 159, doi. 10.1007/s10545-010-9051-4

By:

Di Natale, Paola;
Di Domenico, Carmela;
Di Napoli, Daniele

Publication type:

Article

The risk of Parkinson’s disease in type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 167, doi. 10.1007/s10545-010-9055-0

By:

Bultron, Gilberto;
Kacena, Katherine;
Pearson, Daniel;
Boxer, Michael;
Yang, Ruhua;
Sathe, Swati;
Pastores, Gregory;
Mistry, Pramod

Publication type:

Article

Efficacy of recombinant human α- L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 151, doi. 10.1007/s10545-010-9059-9

By:

Tylki-Szymanska, Anna;
Marucha, Jolanta;
Jurecka, Agnieszka;
Syczewska, Malgorzata;
Czartoryska, Barbara

Publication type:

Article

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 141, doi. 10.1007/s10545-009-9036-3

By:

Tomatsu, Shunji;
Montaño, Adriana;
Oguma, Toshihiro;
Dung, Vu;
Oikawa, Hirotaka;
Carvalho, Talita;
Gutiérrez, María;
Yamaguchi, Seiji;
Suzuki, Yasuyuki;
Fukushi, Masaru;
Sakura, Nobuo;
Barrera, Luis;
Kida, Kazuhiro;
Kubota, Mitsuru;
Orii, Tadao

Publication type:

Article

Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 129, doi. 10.1007/s10545-009-9042-5

By:

Widger, John;
O’Toole, Jennifer;
Geoghegan, Olivia;
O’Keefe, Micheal;
Manning, Rosemarie

Publication type:

Article

Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 113, doi. 10.1007/s10545-010-9052-3

By:

Schoemans, Renaud;
Aigrot, Marie-Stéphane;
Wu, Chaohong;
Marée, Raphaël;
Hong, Pengyu;
Belachew, Shibeshi;
Josse, Claire;
Lubetzki, Catherine;
Bours, Vincent

Publication type:

Article

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 2, p. 133, doi. 10.1007/s10545-009-9027-4

By:

Hagemans, Marloes;
Stigter, Rolinda;
Capelle, Carine;
Beek, Nadine;
Winkel, Leon;
Vliet, Laura;
Hop, Wim;
Reuser, Arnold;
Beishuizen, Auke;
Ploeg, Ans

Publication type:

Article

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.

Published in:

2010

By:

Õunap, Katrin;
Joost, Kairit;
Temberg, Triinu;
Krabbi, Külliki;
Tõnisson, Neeme

Publication type:

Letter