Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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| Title: | Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. |
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| Authors: | Williams M; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Valayannopoulos V; Sanofi Genzyme, Cambridge, Massachusetts, USA.; Reference Center for Inherited Metabolic Disease, Institut IMAGINE, Hopital Universitaire Necker - Enfants Malades, Paris, France., Altassan R; King Abdulaziz Medical City-Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA., Heijboer AC; Endocrine Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.; Laboratory of Endocrinology, Academic Medical Center, Amsterdam, the Netherlands., Keng WT; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Lapatto R; Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland., McClean P; Children's Liver Unit, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Mulder MF; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands., Tylki-Szymańska A; Department of Pediatric, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Warsaw, Poland., Walenkamp ME; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands., Alfadhel M; King Abdulaziz Medical City-Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alakeel H; King Abdulaziz Medical City-Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Salomons GS; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Eyaid W; King Abdulaziz Medical City-Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Wamelink MMC; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 147-158. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12036 |
