المؤلفون: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Glycogen storage disease type Ib, GSD Ib, slc37a4, Pediatric, Empagliflozin, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/b887478bd1004ab09f7b84997b76b077

المؤلفون: Fabiola Guerra, Serena Gasperini, Sonia Bonanomi, Viola Crescitelli, Roberta Pretese, Lorenzo Da Dalt, Giuseppe Danilo Norata, Marta Balzarini, Andrea Biondi, Andrea Baragetti, Francesco Saettini

المصدر: eJHaem, Vol 4, Iss 2, Pp 551-554 (2023)

مصطلحات موضوعية: empagliflozin, glycogen storage disease type Ib, GSD‐Ib, G6PT, inborn errors of immunity, neutropenia, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2688-6146

URL الوصول: https://doaj.org/article/9bc592d8400f4e2d9aab82dcf03e6471

المؤلفون: Shao, Yong-Xian, Liang, Cui-Li, Su, Ya-Ying, Lin, Yun-Ting, Lu, Zhi-Kun, Lin, Rui-Zhu, Zhou, Zhi-Zi, Zeng, Chun-Hua, Tao, Chun-Yan, Liu, Zong-Cai, Zhang, Wen^{Aff1, IDs13023024031376_cor11}, Liu, Li^{Aff1, IDs13023024031376_cor12}

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter

المصدر: JIMD Reports, Vol 63, Iss 4, Pp 303-308 (2022)

مصطلحات موضوعية: empagliflozin, G‐CSF, glucose‐6‐phosphate transporter, glycogen storage disease type Ib, GSD Ib, pregnancy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/f39b0e2f7b604f3cb0459b45f113f3c8

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المساهمون: Lang, Florian, editor^Aff1

المصدر: Encyclopedia of Molecular Mechanisms of Disease. :760-760

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المؤلفون: Suk Jin Hong, Chang-Seok Ki, Jong-Won Kim, Jung Min Ko, Hyung Doo Park, Soo-Youn Lee, Rihwa Choi, Jeongho Lee, Dong Hwan Lee, Junghan Song, Yon Ho Choe

المصدر: Annals of Laboratory Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Genotype, Monosaccharide Transport Proteins, Clinical Biochemistry, Nonsense mutation, Mutation, Missense, Glycogen Storage Disease Type I, medicine.disease_cause, Antiporters, 03 medical and health sciences, Asian People, Republic of Korea, Medicine, Glycogen storage disease, Missense mutation, Humans, Allele, Child, Alleles, Sequence Deletion, Genetics, Mutation, Polymorphism, Genetic, Clinical pathology, business.industry, Korean population, Biochemistry (medical), Infant, General Medicine, Exons, medicine.disease, 030104 developmental biology, Glycogen Storage Disease IB, SLC37A4, Female, Original Article, GSD Ib, mutation, business, Diagnostic Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae7636404d223d9464e7b386b3ebfdd
https://pubmed.ncbi.nlm.nih.gov/28224773

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