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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.
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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  Data: Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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  Data: <searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Valayannopoulos+V%22">Valayannopoulos V</searchLink>; Sanofi Genzyme, Cambridge, Massachusetts, USA.; Reference Center for Inherited Metabolic Disease, Institut IMAGINE, Hopital Universitaire Necker - Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Altassan+R%22">Altassan R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Heijboer+AC%22">Heijboer AC</searchLink>; Endocrine Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.; Laboratory of Endocrinology, Academic Medical Center, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Keng+WT%22">Keng WT</searchLink>; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lapatto+R%22">Lapatto R</searchLink>; Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22McClean+P%22">McClean P</searchLink>; Children's Liver Unit, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink>; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tylki-Szymańska+A%22">Tylki-Szymańska A</searchLink>; Department of Pediatric, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Walenkamp+ME%22">Walenkamp ME</searchLink>; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Alfadhel+M%22">Alfadhel M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alakeel+H%22">Alakeel H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Salomons+GS%22">Salomons GS</searchLink>; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Eyaid+W%22">Eyaid W</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wamelink+MMC%22">Wamelink MMC</searchLink>; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 147-158.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1002/jimd.12036
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      – TitleFull: Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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