Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

M.I.S. Mendes; H.G. Colaco; D.E.C. Smith; R.J.J.F. Ramos; A. Pop; S.J.M. van Dooren; I.T. de Almeida; L.A.J. Kluijtmans; M.C.H. Janssen; I. Rivera; G.S. Salomons; P. Leandro; H.J. Blom

doi:10.1007/s10545-013-9647-6

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

M.I.S. Mendes, H.G. Colaco, D.E.C. Smith, R.J.J.F. Ramos, A. Pop, S.J.M. van Dooren, I.T. de Almeida, L.A.J. Kluijtmans, M.C.H. Janssen, I. Rivera, G.S. Salomons, P. Leandro, H.J. Blom

Clinical chemistry

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	245-254
Journal	Journal of Inherited Metabolic Disease
Volume	37
Issue number	2
DOIs	https://doi.org/10.1007/s10545-013-9647-6
Publication status	Published - 2014

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10.1007/s10545-013-9647-6

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Mendes, M. I. S., Colaco, H. G., Smith, D. E. C., Ramos, R. J. J. F., Pop, A., van Dooren, S. J. M., de Almeida, I. T., Kluijtmans, L. A. J., Janssen, M. C. H., Rivera, I., Salomons, G. S., Leandro, P., & Blom, H. J. (2014). Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Journal of Inherited Metabolic Disease, 37(2), 245-254. https://doi.org/10.1007/s10545-013-9647-6

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title = "Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients",

author = "M.I.S. Mendes and H.G. Colaco and D.E.C. Smith and R.J.J.F. Ramos and A. Pop and {van Dooren}, S.J.M. and {de Almeida}, I.T. and L.A.J. Kluijtmans and M.C.H. Janssen and I. Rivera and G.S. Salomons and P. Leandro and H.J. Blom",

year = "2014",

doi = "10.1007/s10545-013-9647-6",

language = "Undefined/Unknown",

volume = "37",

pages = "245--254",

journal = "Journal of Inherited Metabolic Disease",

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Mendes, MIS, Colaco, HG, Smith, DEC, Ramos, RJJF, Pop, A, van Dooren, SJM, de Almeida, IT, Kluijtmans, LAJ, Janssen, MCH, Rivera, I, Salomons, GS, Leandro, P & Blom, HJ 2014, 'Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients', Journal of Inherited Metabolic Disease, vol. 37, no. 2, pp. 245-254. https://doi.org/10.1007/s10545-013-9647-6

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. / Mendes, M.I.S.; Colaco, H.G.; Smith, D.E.C. et al.

In: Journal of Inherited Metabolic Disease, Vol. 37, No. 2, 2014, p. 245-254.

Research output: Contribution to journal › Article › Academic › peer-review

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T1 - Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

AU - Mendes, M.I.S.

AU - Colaco, H.G.

AU - Smith, D.E.C.

AU - Ramos, R.J.J.F.

AU - Pop, A.

AU - van Dooren, S.J.M.

AU - de Almeida, I.T.

AU - Kluijtmans, L.A.J.

AU - Janssen, M.C.H.

AU - Rivera, I.

AU - Salomons, G.S.

AU - Leandro, P.

AU - Blom, H.J.

PY - 2014

Y1 - 2014

U2 - 10.1007/s10545-013-9647-6

DO - 10.1007/s10545-013-9647-6

M3 - Article

C2 - 23974653

VL - 37

SP - 245

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JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

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