Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Despina Contopoulos-Ioannidis; Athanasios Evangeliou; Henk Ter Laak; Bert De Vries; Rolph Pfundt; Hans Scheffer; Jan Smeitink; Meropi Tzoufi; Alexandros Makis; Evangelos Marinos; Richard Hess; David Adams; Marjan Huizing; Eva Morava

doi:10.1002/ajmg.a.32569

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk Ter Laak, Bert De Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	3100-3103
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	23
DOIs	https://doi.org/10.1002/ajmg.a.32569
State	Published - 1 Dec 2008
Externally published	Yes

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10.1002/ajmg.a.32569

Cite this

Contopoulos-Ioannidis, D., Evangeliou, A., Ter Laak, H., De Vries, B., Pfundt, R., Scheffer, H., Smeitink, J., Tzoufi, M., Makis, A., Marinos, E., Hess, R., Adams, D., Huizing, M., & Morava, E. (2008). Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. American Journal of Medical Genetics, Part A, 146(23), 3100-3103. https://doi.org/10.1002/ajmg.a.32569

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title = "Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency",

author = "Despina Contopoulos-Ioannidis and Athanasios Evangeliou and {Ter Laak}, Henk and {De Vries}, Bert and Rolph Pfundt and Hans Scheffer and Jan Smeitink and Meropi Tzoufi and Alexandros Makis and Evangelos Marinos and Richard Hess and David Adams and Marjan Huizing and Eva Morava",

year = "2008",

month = dec,

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doi = "10.1002/ajmg.a.32569",

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Contopoulos-Ioannidis, D, Evangeliou, A, Ter Laak, H, De Vries, B, Pfundt, R, Scheffer, H, Smeitink, J, Tzoufi, M, Makis, A, Marinos, E, Hess, R, Adams, D, Huizing, M & Morava, E 2008, 'Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency', American Journal of Medical Genetics, Part A, vol. 146, no. 23, pp. 3100-3103. https://doi.org/10.1002/ajmg.a.32569

TY - JOUR

T1 - Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

AU - Contopoulos-Ioannidis, Despina

AU - Evangeliou, Athanasios

AU - Ter Laak, Henk

AU - De Vries, Bert

AU - Pfundt, Rolph

AU - Scheffer, Hans

AU - Smeitink, Jan

AU - Tzoufi, Meropi

AU - Makis, Alexandros

AU - Marinos, Evangelos

AU - Hess, Richard

AU - Adams, David

AU - Huizing, Marjan

AU - Morava, Eva

PY - 2008/12/1

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U2 - 10.1002/ajmg.a.32569

DO - 10.1002/ajmg.a.32569

M3 - Letter

C2 - 19006216

AN - SCOPUS:57149119699

SN - 1552-4825

VL - 146

SP - 3100

EP - 3103

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 23

ER -