Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients-Reference-Cited by-同舟云学术

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Published:2019-01 Issue:1 Volume:42 Page:147-158
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Williams Monique¹,Valayannopoulos Vassili²³,Altassan Ruqaiah⁴,Chung Wendy K.⁵,Heijboer Annemieke C.⁶⁷,Keng Wei Teik⁸,Lapatto Risto⁹,McClean Patricia¹⁰,Mulder Margot F.¹¹,Tylki‐Szymańska Anna¹²,Walenkamp Marie‐Jose E.¹¹,Alfadhel Majid⁴,Alakeel Hajar⁴,Salomons Gajja S.¹,Eyaid Wafaa⁴,Wamelink Mirjam M. C.¹

Affiliation:

1. Metabolic Laboratory, Department of Clinical ChemistryAmsterdam Neuroscience, VU University Medical Center Amsterdam The Netherlands

2. Sanofi Genzyme Cambridge Massachusetts USA

3. Reference Center for Inherited Metabolic DiseaseInstitut IMAGINE, Hopital Universitaire Necker ‐ Enfants Malades Paris France

4. 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

5. Departments of Pediatrics and MedicineColumbia University New York New York USA

6. Endocrine Laboratory, Department of Clinical ChemistryVU University Medical Center Amsterdam The Netherlands

7. Laboratory of EndocrinologyAcademic Medical Center Amsterdam the Netherlands

8. Genetic DepartmentHospital Kuala Lumpur Kuala Lumpur Malaysia

9. Children’s HospitalUniversity of Helsinki and Helsinki University Central Hospital Helsinki Finland

10. Children’s Liver UnitLeeds Teaching Hospitals NHS Trust Leeds UK

11. Department of PediatricsVU University Medical Center Amsterdam The Netherlands

12. Department of Pediatric, Nutrition and Metabolic DiseaseThe Children’s Memorial Health Institute Warsaw Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12036

Reference27 articles.

1. Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

2. Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

3. Transaldolase deficiency in a two-year-old boy with cirrhosis

4. Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method

5. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review);I.P. Pavlov Russian Medical Biological Herald;2024-07-10

2. Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure;Hepatology;2024-05-16

3. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

4. Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review;JCEM Case Reports;2024-02-23

5. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024