Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

CMC Maranduba; Edith Friesema; F Kok; Monique Kester; Jurgen Jansen; AL Sertie; MR Passos-Bueno; Theo Visser

doi:10.1136/jmg.2005.035840

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

CMC Maranduba, Edith Friesema, F Kok, Monique Kester, Jurgen Jansen, AL Sertie, MR Passos-Bueno, Theo Visser

Internal Medicine

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

59 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	457-460
Number of pages	4
Journal	Journal of Medical Genetics
Volume	43
Issue number	5
DOIs	https://doi.org/10.1136/jmg.2005.035840
Publication status	Published - 2006

Research programs

EMC MM-01-39-03

Access to Document

10.1136/jmg.2005.035840

http://hdl.handle.net/1765/54984

Cite this

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title = "Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter",

author = "CMC Maranduba and Edith Friesema and F Kok and Monique Kester and Jurgen Jansen and AL Sertie and MR Passos-Bueno and Theo Visser",

year = "2006",

doi = "10.1136/jmg.2005.035840",

language = "Undefined/Unknown",

volume = "43",

pages = "457--460",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

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AU - Maranduba, CMC

AU - Friesema, Edith

AU - Kok, F

AU - Kester, Monique

AU - Jansen, Jurgen

AU - Sertie, AL

AU - Passos-Bueno, MR

AU - Visser, Theo

PY - 2006

Y1 - 2006

U2 - 10.1136/jmg.2005.035840

DO - 10.1136/jmg.2005.035840

M3 - Article

C2 - 15980113

SN - 0022-2593

VL - 43

SP - 457

EP - 460

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 5

ER -