Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

R Urreizti; A.A Moya-García; A Pino-Ángeles; M Cozar; A Langkilde; U Fanhoe; C Esteves; J Arribas; M.A Vilaseca; B Pérez-Dueñas; M Pineda; V González; R Artuch; A Baldellou; L Vilarinho; B Fowler; A Ribes; F Sánchez-Jiménez; D Grinberg; S. Balcells

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

R Urreizti, A.A Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, M.A Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Ribes, F Sánchez-Jiménez, D Grinberg, S. Balcells

Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia

Producció científica: Contribució a revista › Article › Recerca

21 Cites (Scopus)

Idioma original	Anglès
Pàgines (de-a)	441-448
Revista	Clinical Genetics
Volum	78
Número	5
Estat de la publicació	Publicada - 1 de gen. 2010

Com citar-ho

Urreizti, R., Moya-García, A. A., Pino-Ángeles, A., Cozar, M., Langkilde, A., Fanhoe, U., Esteves, C., Arribas, J., Vilaseca, M. A., Pérez-Dueñas, B., Pineda, M., González, V., Artuch, R., Baldellou, A., Vilarinho, L., Fowler, B., Ribes, A., Sánchez-Jiménez, F., Grinberg, D., & Balcells, S. (2010). Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical Genetics, 78(5), 441-448.

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title = "Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency",

author = "R Urreizti and A.A Moya-Garc{\'i}a and A Pino-{\'A}ngeles and M Cozar and A Langkilde and U Fanhoe and C Esteves and J Arribas and M.A Vilaseca and B P{\'e}rez-Due{\~n}as and M Pineda and V Gonz{\'a}lez and R Artuch and A Baldellou and L Vilarinho and B Fowler and A Ribes and F S{\'a}nchez-Jim{\'e}nez and D Grinberg and S. Balcells",

year = "2010",

month = jan,

day = "1",

language = "English",

volume = "78",

pages = "441--448",

journal = "Clinical Genetics",

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Urreizti, R, Moya-García, AA, Pino-Ángeles, A, Cozar, M, Langkilde, A, Fanhoe, U, Esteves, C, Arribas, J, Vilaseca, MA, Pérez-Dueñas, B, Pineda, M, González, V, Artuch, R, Baldellou, A, Vilarinho, L, Fowler, B, Ribes, A, Sánchez-Jiménez, F, Grinberg, D & Balcells, S 2010, 'Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency', Clinical Genetics, vol. 78, núm. 5, pàg. 441-448.

TY - JOUR

T1 - Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

AU - Urreizti, R

AU - Moya-García, A.A

AU - Pino-Ángeles, A

AU - Cozar, M

AU - Langkilde, A

AU - Fanhoe, U

AU - Esteves, C

AU - Arribas, J

AU - Vilaseca, M.A

AU - Pérez-Dueñas, B

AU - Pineda, M

AU - González, V

AU - Artuch, R

AU - Baldellou, A

AU - Vilarinho, L

AU - Fowler, B

AU - Ribes, A

AU - Sánchez-Jiménez, F

AU - Grinberg, D

AU - Balcells, S.

PY - 2010/1/1

Y1 - 2010/1/1

M3 - Article

SN - 0009-9163

VL - 78

SP - 441

EP - 448

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -