المؤلفون: David G. Jackson, Rebecca L. Koch, Surekha Pendyal, Robert Benjamin, Priya S. Kishnani

المصدر: JIMD Reports, Vol 64, Iss 5, Pp 303-311 (2023)

مصطلحات موضوعية: glycogen storage disease, glycogen storage disease Ia, growth hormone therapy, hepatocellular adenoma, von Gierke disease, 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/49c793fbe95e407f919911603cd776fe

المؤلفون: Mengqi Zhang, Zhenjie Zhang, Zhixing Sun, Yuheng Yuan, Mingsheng Ma, Yuehui Hong, Zhengqing Qiu

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Linear relationship, Chemistry, Internal medicine, medicine, lipids (amino acids, peptides, and proteins), GLYCOGEN STORAGE DISEASE Ia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0435d424fb88d31871a471cfaf576264
https://doi.org/10.21203/rs.3.rs-23902/v1

المؤلفون: Gabriel M. Groisman, Joel R. Rosh, Audrey H. Schwersenz, Neal S. Leleiko, Janna C. Collins, Charles M. Miller, Myron Schwartz

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adenoma, Pathology, medicine.medical_specialty, Adolescent, business.industry, Liver Neoplasms, Gastroenterology, Glycogen Storage Disease Type I, medicine.disease, X ray computed, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, GLYCOGEN STORAGE DISEASE Ia, Tomography, X-Ray Computed, business, Complication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf758cf191604555883d1d5956d3b68
https://doi.org/10.1097/00005176-199502000-00014

المؤلفون: Takehiko Ohzeki, Toshifumi Nakamura, Akira Endoh, Haruhiko Sugimura, Toshihiko Katoh, Noriko Inoue

المصدر: Journal of pediatric gastroenterology and nutrition. 33(3)

مصطلحات موضوعية: Adenoma, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Glycogen Storage Disease Type I, Gastroenterology, Catheterization, Combined treatment, Internal medicine, Abdomen, Medicine, Humans, Hypoglycemic Agents, Embolization, Acarbose, Ultrasonography, business.industry, Arterial Embolization, Liver Neoplasms, medicine.disease, Embolization, Therapeutic, Magnetic Resonance Imaging, Surgery, Pediatrics, Perinatology and Child Health, GLYCOGEN STORAGE DISEASE Ia, business, Complication, Tomography, X-Ray Computed, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3739c317625230c64cd62a67de6a81e3
https://pubmed.ncbi.nlm.nih.gov/11593132

المؤلفون: Janet E. Tuttle-Newhall, Carlos E. Marroquin, Dev M. Desai, Alastair D. Smith, Bradley H. Collins

المصدر: American Journal of Gastroenterology. 101:S194

مصطلحات موضوعية: medicine.medical_specialty, Hepatology, business.industry, Treatment modality, Internal medicine, medicine.medical_treatment, Gastroenterology, Medicine, GLYCOGEN STORAGE DISEASE Ia, Liver transplantation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::467de781bbd20b56710370bca0e10c79
https://doi.org/10.14309/00000434-200609001-00447

المؤلفون: Mei-Chen Wu, Cheng-Chun Le, Jer-Yuarn Wu, Shuan-Pei Lin, Fuu Jen Tsai

المصدر: Human Mutation. 15:390-390

مصطلحات موضوعية: Glycogen storage disease type I, Amino acid substitution, Disease, Biology, medicine.disease, Molecular biology, Phenotype, Genetics, medicine, biology.protein, Missense mutation, GLYCOGEN STORAGE DISEASE Ia, Gene, Genetics (clinical), Glucose 6-phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de9eae270d0428e9cec07b5a21aa4efb
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<390::aid-humu32>3.0.co;2-n

المؤلفون: Laura Vilarinho, Aguinaldo Cabral, Hugo Alexandre Oliveira Rocha

المصدر: Human Mutation. 16:449-449

مصطلحات موضوعية: Genetics, G6PC, Portugal, biology, Glutamine, Nonsense mutation, Mutation, Missense, Disease, Glycogen Storage Disease Type I, Amino Acid Substitution, Codon, Nonsense, Codon, Terminator, Glucose-6-Phosphatase, biology.protein, Humans, Identification (biology), GLYCOGEN STORAGE DISEASE Ia, Gene, Genetics (clinical), Glucose 6-phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f46d417397347380de7faf8669619f
https://doi.org/10.1002/1098-1004(200011)16:5<449::aid-humu25>3.0.co;2-l

المؤلفون: Mei-Chen Wu, Jer-Yuarn Wu, Fuu Jen Tsai, Cheng-Chun Lee, Chang Hai Tsai

المصدر: Human Mutation. 16:447-447

مصطلحات موضوعية: Genetics, G6PC, biology, biology.protein, Missense mutation, Disease, Chinese family, GLYCOGEN STORAGE DISEASE Ia, Genetics (clinical), Glucose 6-phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ff991a177d9485d1d16091c84e1049a8
https://doi.org/10.1002/1098-1004(200011)16:5<447::aid-humu17>3.0.co;2-m

المؤلفون: J. Brouard, Olivier Bernard, L. Faivre, J. Valayer, Didier Houssin

المصدر: Journal of Pediatric Gastroenterology & Nutrition. 24:485

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine.medical_treatment, Internal medicine, Pediatrics, Perinatology and Child Health, Gastroenterology, medicine, In patient, Liver transplantation, GLYCOGEN STORAGE DISEASE Ia, business, Term (time)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::211b9847b9f8a9053250c04d5960d6dd
https://doi.org/10.1097/00005176-199704000-00153