Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

W. Eyaid; T. Al Harbi; S. Anazi; M.M.C. Wamelink; C.A.J.M. Jakobs; M. Al Salammah; M. Al Balwi; M. Alfadhel; F. Alkuraya

doi:https://doi.org/10.1007/s10545-012-9577-8

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

W. Eyaid, T. Al Harbi, S. Anazi, M.M.C. Wamelink, C.A.J.M. Jakobs, M. Al Salammah, M. Al Balwi, M. Alfadhel, F. Alkuraya

Laboratory Medicine (VUmc)

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

26 Citations (Scopus)

Original language	English
Pages (from-to)	997-1004
Journal	Journal of Inherited Metabolic Disease
Volume	36
Issue number	6
DOIs	https://doi.org/10.1007/s10545-012-9577-8
Publication status	Published - 2013

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https://doi.org/10.1007/s10545-012-9577-8

Cite this

@article{a4793bfbac2c4a1eb89cc3d40d0524f1,

title = "Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype",

author = "W. Eyaid and {Al Harbi}, T. and S. Anazi and M.M.C. Wamelink and C.A.J.M. Jakobs and {Al Salammah}, M. and {Al Balwi}, M. and M. Alfadhel and F. Alkuraya",

year = "2013",

doi = "https://doi.org/10.1007/s10545-012-9577-8",

language = "English",

volume = "36",

pages = "997--1004",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "6",

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TY - JOUR

T1 - Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

AU - Eyaid, W.

AU - Al Harbi, T.

AU - Anazi, S.

AU - Wamelink, M.M.C.

AU - Jakobs, C.A.J.M.

AU - Al Salammah, M.

AU - Al Balwi, M.

AU - Alfadhel, M.

AU - Alkuraya, F.

PY - 2013

Y1 - 2013

U2 - https://doi.org/10.1007/s10545-012-9577-8

DO - https://doi.org/10.1007/s10545-012-9577-8

M3 - Article

C2 - 23315216

SN - 0141-8955

VL - 36

SP - 997

EP - 1004

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -