المصدر: Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT02385162Test

Other URLs: http://centogene.comTest

المؤلفون: Naomi Kondo, Toshiyuki Fukao, Takahide Teramoto, Hideo Kaneko, Takahiro Arai, Gaixiu Zhang, Hideo Sugie, Yusuke Aoki

المصدر: Molecular Genetics and Metabolism. 92:179-182

مصطلحات موضوعية: Male, Genetic Linkage, Phosphorylase Kinase, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Alu element, Biology, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, Exon, Endocrinology, Alu Elements, Genes, X-Linked, Genetic linkage, Sequence Homology, Nucleic Acid, Complementary DNA, Genetics, medicine, Humans, Molecular Biology, Gene, Sequence Deletion, Glycogen Storage Disease Type VIII, Chromosomes, Human, X, Mutation, Base Sequence, Infant, Newborn, Intron, Exons, Molecular biology, Introns, Liver, Homologous recombination

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cc6c768a0f1516b376bf6f9a96fec65Test
https://doi.org/10.1016/j.ymgme.2007.05.007Test

المؤلفون: Margaret Semrud-Clikeman, Moana Kruschwitz

المصدر: Encyclopedia of Special Education

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Chemistry, Internal medicine, medicine, Glycogen storage disease type VIII

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6de25835073e4875d597db33babcfadbTest
https://doi.org/10.1002/9781118660584.ese1032Test

المؤلفون: S. DiMauro, Helenius J. Schelhaas, Susanne Tvede Andersen, O. P. van Diggelen, Hasan O. Akman, Ron A. Wevers, Tina D. Jeppesen, Mette Cathrine Ørngreen, J. Vissing, H.J. ter Laak

المساهمون: Clinical Genetics

المصدر: Neurology, 70, 20, pp. 1876-82
Neurology, 70(20), 1876-1882. Lippincott Williams & Wilkins
Neurology, 70, 1876-82

مصطلحات موضوعية: Male, medicine.medical_specialty, Glycogenolysis, Energy and redox metabolism [NCMLS 4], Phosphorylase Kinase, Physical Exertion, Metabolic myopathy, Biology, Neuroinformatics [DCN 3], Glycogen phosphorylase, Internal medicine, medicine, Perception and Action [DCN 1], Humans, Point Mutation, Lactic Acid, Muscle, Skeletal, Phosphorylase kinase, Glycogen storage disease type VIII, Glycogen Storage Disease Type VIII, Chromosomes, Human, X, Muscle Weakness, Muscle weakness, Middle Aged, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Oxidative Stress, Protein Subunits, Endocrinology, Genetic defects of metabolism [UMCN 5.1], Myophosphorylase, Exercise Test, Glycogen Storage Disease Type V, Neurology (clinical), medicine.symptom, Functional Neurogenomics [DCN 2], Glycogen, Glycogen storage disease type V

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6d036f8b1cd65fff14a63f2029b9dfTest
https://hdl.handle.net/2066/69600Test

المؤلفون: J, Finsterer

المصدر: Fortschritte der Neurologie-Psychiatrie. 79(10)

مصطلحات موضوعية: Glycogen Storage Disease Type VIII, Phosphoglycerate Mutase, Glycogen Storage Disease Type VII, L-Lactate Dehydrogenase, Glycogen Storage Disease Type II, Mitochondrial Myopathies, Glycogen Storage Disease Type III, Glycogen Storage Disease Type IV, Phosphoglycerate Kinase, Fructose-Bisphosphate Aldolase, Carbohydrate Metabolism, Glycogen Storage Disease Type V, Humans, Phosphorylase b, Glycogen, Carbohydrate Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::345eac8274c6f0a800f14e7922bdcfd6Test
https://pubmed.ncbi.nlm.nih.gov/21989512Test

المؤلفون: T, Nishigaki

المصدر: Ryoikibetsu shokogun shirizu. (18 Pt 1)

مصطلحات موضوعية: Diagnosis, Differential, Glycogen Storage Disease Type VIII, X Chromosome, Liver, Phosphorylases, Phosphorylase Kinase, Humans, Genes, Recessive, Muscle, Skeletal, Prognosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::53d2b1876a93a05d458051ba9839a4f0Test
https://pubmed.ncbi.nlm.nih.gov/9589988Test

المؤلفون: Jacqueline A. Taylor, Pooranalingham Jeyarathan, Robert Geddes

المصدر: Carbohydrate research. 227

مصطلحات موضوعية: Blood Glucose, Phosphorylase Kinase, Glucosidase Inhibitor, Biochemistry, Analytical Chemistry, Glycogen debranching enzyme, chemistry.chemical_compound, Lysosome, Glycogen branching enzyme, medicine, Animals, Glycoside Hydrolase Inhibitors, Glycogen synthase, Pyruvates, Glycogen storage disease type VIII, Acarbose, Glycogen Storage Disease Type VII, biology, Glycogen, Organic Chemistry, Serine Endopeptidases, General Medicine, Rats, Disease Models, Animal, medicine.anatomical_structure, chemistry, biology.protein, Lactates, Endopeptidase K, Lysosomes, Trisaccharides, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ea8b7b371b015eb90e02f9ff6e985cTest
https://pubmed.ncbi.nlm.nih.gov/1499032Test

المؤلفون: N, Kono, S, Tarui

المصدر: Nihon rinsho. Japanese journal of clinical medicine. 48(7)

مصطلحات موضوعية: Diagnosis, Differential, Glycogen Storage Disease Type VIII, Glycogen Storage Disease Type III, Glycogen Storage Disease Type IV, Glycogen Storage Disease Type VII, Glycogen Storage Disease Type II, Glycogen Storage Disease Type V, Humans, Glycogen Storage Disease, Glycogen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7232475a5ae896369ca83d5310db83c8Test
https://pubmed.ncbi.nlm.nih.gov/2402067Test

المؤلفون: Patrick J. Willems

المصدر: American Journal of Medical Genetics. 37:441-441

مصطلحات موضوعية: Glycogen Storage Disease Type VIII, medicine.medical_specialty, X Chromosome, Chemistry, Chromosome Mapping, Biology, medicine.disease, Glycogen Storage Disease, Pedigree, Endocrinology, Biochemistry, Internal medicine, Genetics, medicine, Glycogen storage disease, Humans, Glycogen storage disease type VIII, X chromosome, Genetics (clinical), Phosphorylase Kinase Deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b088ad0ecdaaeef2b61cf8b136b3ad41Test
https://doi.org/10.1002/ajmg.1320370336Test

المؤلفون: H. C. Walvoort

المصدر: Journal of Inherited Metabolic Disease. 6:3-16

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cattle Diseases, Rodentia, Biology, Quail, Glycogen debranching enzyme, Rodent Diseases, Glycogen Storage Disease Type III, Mice, chemistry.chemical_compound, Glycogen phosphorylase, Dogs, Internal medicine, Genetics, medicine, Animals, Humans, Glycogen storage disease, Dog Diseases, Protein kinase A, Genetics (clinical), Glycogen Storage Disease Type VIII, Glycogen, Bird Diseases, Glycogen Storage Disease Type II, Genetic heterogeneity, nutritional and metabolic diseases, Glycogen Storage Disease, medicine.disease, Human genetics, Rats, Disease Models, Animal, Endocrinology, chemistry, Myophosphorylase, Cattle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed3bfe7017a33bbe1a3e61082b89694Test
https://doi.org/10.1007/bf02391186Test