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

Results: 10

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
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
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
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