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

Department of Cellular Biology, Physiology and Immunology

Research output: Contribution to journal › Article › Research

17 Citations (Scopus)

Original language	English
Pages (from-to)	441-448
Journal	Clinical Genetics
Volume	78
Issue number	5
Publication status	Published - 1 Jan 2010

Cite this

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.

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. / Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. In: Clinical Genetics. 2010 ; Vol. 78, No. 5. pp. 441-448.

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

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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, no. 5, pp. 441-448.

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

In: Clinical Genetics, Vol. 78, No. 5, 01.01.2010, p. 441-448.

Research output: Contribution to journal › Article › Research

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

VL - 78

SP - 441

EP - 448

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

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