Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

A.M. Bosch; N.G.G.M. Abeling; L. IJlst; H. Knoester; W.L. van der Pol; A.E.M. Stroomer; R.J. Wanders; G. Visser; F.A. Wijburg; M. Duran; H.R. Waterham

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

A.M. Bosch
, N.G.G.M. Abeling
, L. IJlst
, H. Knoester
, W.L. van der Pol
, A.E.M. Stroomer
, R.J. Wanders
, G. Visser
, F.A. Wijburg
, M. Duran
, H.R. Waterham

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

Original language	English
Pages (from-to)	159-164
Number of pages	6
Journal	Journal of Inherited Metabolic Disease
Volume	34
Issue number	1
Publication status	Published - 2011

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Cite this

Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol, W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., & Waterham, H. R. (2011). Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. Journal of Inherited Metabolic Disease, 34(1), 159-164.

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title = "Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "A.M. Bosch and N.G.G.M. Abeling and L. IJlst and H. Knoester and \{van der Pol\}, W.L. and A.E.M. Stroomer and R.J. Wanders and G. Visser and F.A. Wijburg and M. Duran and H.R. Waterham",

year = "2011",

language = "English",

volume = "34",

pages = "159--164",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "1",

}

Bosch, AM, Abeling, NGGM, IJlst, L, Knoester, H, van der Pol, WL, Stroomer, AEM, Wanders, RJ, Visser, G, Wijburg, FA, Duran, M & Waterham, HR 2011, 'Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment', Journal of Inherited Metabolic Disease, vol. 34, no. 1, pp. 159-164.

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. / Bosch, A.M.; Abeling, N.G.G.M.; IJlst, L. et al.
In: Journal of Inherited Metabolic Disease, Vol. 34, No. 1, 2011, p. 159-164.

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

TY - JOUR

T1 - Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

AU - Bosch, A.M.

AU - Abeling, N.G.G.M.

AU - IJlst, L.

AU - Knoester, H.

AU - van der Pol, W.L.

AU - Stroomer, A.E.M.

AU - Wanders, R.J.

AU - Visser, G.

AU - Wijburg, F.A.

AU - Duran, M.

AU - Waterham, H.R.

PY - 2011

Y1 - 2011

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 0141-8955

VL - 34

SP - 159

EP - 164

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 1

ER -