Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
- Author
- EYAID, Wafaa1 2 ; AL HARBI, Talal2 3 ; ANAZI, Shamsa4 ; WAMELINK, Mirjam M. C5 ; JAKOBS, Cornelis5 ; AL SALAMMAH, Mohammad1 2 ; AL BALWI, Mohammed2 ; ALFADHEL, Majid1 2 6 ; ALKURAYA, Fowzan S4 7 8
[1] Department of Pediatrics, Genetics division, King AbdulAziz Medical City, Riyadh, Saudi Arabia
[2] King Saud bin AbdulAziz University for Health Sciences, Riyadh, Saudi Arabia
[3] Department of Hematology/Oncology, King AbdulAziz Medical City, Riyadh, Saudi Arabia
[4] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
[5] Department of Clinical Chemistry, VU University Medical Center, Amsterdam, Netherlands
[6] Department of Pathology, King AbdulAziz Medical City, Riyadh, Saudi Arabia
[7] Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
[8] Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia - Source
Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 997-1004, 8 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Déficit Etude cas Génétique Homme Maladie héréditaire Maladie métabolique Nutrition Phénotype Transaldolase Enzyme Transferases
- Keyword (en)
- Deficiency Case study Genetics Human Genetic disease Metabolic diseases Nutrition Phenotype Transaldolase Enzyme Transferases
- Keyword (es)
- Déficiencia Estudio caso Genética Hombre Enfermedad hereditaria Metabolismo patología Nutrición Fenotipo Transaldolase Enzima Transferases
- Classification
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 27909830
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-012-9577-8 
https://dx.doi.org/10.1007/s10545-012-9577-8
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