المؤلفون: Qi Ni, Meiling Tang, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Wenhao Zhou, Xinran Dong

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: fructose-1, 6-bisphosphatase deficiency, prevalence estimation, curation for pathogenic variants, newborn screening, allele frequency comparison, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1296797/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c285b8ae1aa64b5ea23274f29c49c07b

المؤلفون: Shiyue Mei, Chao Ma, Yibing Cheng, Suyun Qian, Zhipeng Jin

المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 122-126 (2019)

مصطلحات موضوعية: 6‐bisphosphatase deficiency, FBP1, Fructose‐1, Hypoglycemia, Mutation, Status epilepticus, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2574-2272

URL الوصول: https://doaj.org/article/c2c1029bfa994eeeaaab676755bcd205

المؤلفون: Magali Gorce, Elise Lebigot, Alina Arion, Anaïs Brassier, Aline Cano, Pascale De Lonlay, François Feillet, Claire Gay, François Labarthe, Marie‐Cécile Nassogne, Sandrine Roche, Agathe Roubertie, Elise Sacaze, Guy Touati, Pierre Broué

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Journal of inherited metabolic disease, Vol. 45, no.2, p. 215-222 (2022)

مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, medicine.medical_specialty, Fructose, Hypoglycemia, Gastroenterology, Mice, Liver disease, Internal medicine, Genetics, medicine, Animals, Humans, Transaminases, Genetics (clinical), medicine.diagnostic_test, business.industry, Fatty liver, acute liver failure, medicine.disease, 6-bisphosphatase deficiency, Fructose-Bisphosphatase, Fatty Liver, lactic acidosis, Liver, Lactic acidosis, Liver biopsy, bright liver, Etiology, fatty liver disease, Hyperlactatemia, fructose-1, Steatosis, business, gluconeogenesis defect, Follow-Up Studies, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e22dbb4aa69956b696a658e4dbd9fb
https://doi.org/10.1002/jimd.12452

المؤلفون: Suyun Qian, Zhipeng Jin, Shiyue Mei, Chao Ma, Yibing Cheng

المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 122-126 (2019)
Pediatric Investigation

مصطلحات موضوعية: Proband, medicine.medical_specialty, Case Report, Case Reports, Status epilepticus, Gene mutation, Hypoglycemia, Compound heterozygosity, Pediatrics, RJ1-570, FBP1, Internal medicine, medicine, Exome sequencing, business.industry, 6‐bisphosphatase deficiency, medicine.disease, Endocrinology, Fructose‐1, Pediatrics, Perinatology and Child Health, Mutation, Ketonuria, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79bafad0bb6d0d3102827edba69000f
https://doaj.org/article/c2c1029bfa994eeeaaab676755bcd205

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المؤلفون: Anaïs Brassier, Patrice Therond, Audrey Boutron, Dilek Imanci, Elise Lebigot, Mokhtar Zater, Pascale de Lonlay, François Feillet

المساهمون: Service de Biochimie [CHU Bicêtre], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Moléculaire Pharmacogénétique et Hormonologie [CHU Bicêtre], Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2015, 38 (5), pp.881-887. ⟨10.1007/s10545-014-9804-6⟩

مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, Male, Identification, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Inheritance Patterns, Mutation, Missense, Fructose 1,6-bisphosphatase, Leukocyte Enzyme-Activity, Hypoglycemia, Real-Time Polymerase Chain Reaction, medicine.disease_cause, 6-Diphosphatase, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, Gene duplication, Genetics, medicine, Humans, Glycogen storage disease, Genetics (clinical), 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Mutation, Base Sequence, biology, FBP1, 6-Bisphosphatase Deficiency, Infant, Newborn, Infant, medicine.disease, Fructose-Bisphosphatase, 3. Good health, Endocrinology, Fructose-1, Child, Preschool, Lactic acidosis, biology.protein, Female, France, RNA Splice Sites, Gene Deletion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fec9cd4ebd0e628d4313e3bfa96b186
https://doi.org/10.1007/s10545-014-9804-6

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المؤلفون: Sandeep Kumar Kanwal, Ankita Sharma, Viswas Chhapola, Virendra Kumar

المصدر: Journal of Postgraduate Medicine
Journal of Postgraduate Medicine, Vol 64, Iss 3, Pp 180-182 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:Medicine, Case Report, recurrent vomiting, Gene mutation, Hypoglycemia, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Medicine, Hyperuricemia, business.industry, FBP1, lcsh:R, Hypertriglyceridemia, General Medicine, medicine.disease, 6-bisphosphatase deficiency, fructose 1, gluconeogenesis, 030104 developmental biology, Enzyme defect, Lactic acidosis, genetic mutation, Vomiting, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbb7666d4c43c9646fe53d17a2e45df
https://doi.org/10.4103/jpgm.jpgm_216_17

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