المؤلفون: Na Tao, Xiaomei Liu, Yueqi Chen, Meiyuan Sun, Fang Xu, Yanfang Su

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Complex glycerol kinase deficiency, Infant, Xp21 contiguous gene deletion syndrome, Corticosteroid replacement, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/9cf788680d1d4dc4bbcfb8d03b3aae51

المؤلفون: ZAFFANELLO, Marco, ZAMBONI, Giorgio, TONIN, PAOLA, Solero GP, TATO', Luciano

المساهمون: Zaffanello, Marco, Zamboni, Giorgio, Tonin, Paola, Solero, Gp, Tato', Luciano

مصطلحات موضوعية: body growth, complex glycerol kinase deficiency, contiguous gene syndrome, psychomotor development

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15009558; info:eu-repo/semantics/altIdentifier/wos/WOS:000220068500017; volume:40; issue:4; firstpage:237; lastpage:240; numberofpages:4; journal:JOURNAL OF PAEDIATRICS AND CHILD HEALTH; http://hdl.handle.net/11562/26382; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-2342457167; http:/dx.doi.org/10.1111/j.1440-1754.2004.00346.x

الاتاحة: http://hdl.handle.net/11562/26382
https://doi.org/10.1111/j.1440-1754.2004.00346.x

المؤلفون: Giorgio Zamboni, Gp Solero, Paola Tonin, Luciano Tatò, Marco Zaffanello

المصدر: Journal of paediatrics and child health. 40(4)

مصطلحات موضوعية: Male, Glycerol kinase, medicine.medical_specialty, psychomotor development, Duchenne muscular dystrophy, Biopsy, body growth, Internal medicine, Glycerol Kinase, Surveys and Questionnaires, contiguous gene syndrome, Medicine, Humans, Child, Muscle, Skeletal, Growth Disorders, Psychomotor learning, Psychomotor retardation, biology, business.industry, Adrenal hypoplasia, Glycerol kinase deficiency, medicine.disease, complex glycerol kinase deficiency, Muscular Dystrophy, Duchenne, Fetal Diseases, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, Growth delay, Psychomotor Disorders, business, Psychomotor disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b74ec4a380872186417a17017c04d590
https://pubmed.ncbi.nlm.nih.gov/15009558

المؤلفون: H. Kakinuma, S. Murayama, F. Nakamura, Fumiko Saito, J. Goto, I. Nakano, A. Tonomura

المصدر: Clinical Genetics. 29:92-93

مصطلحات موضوعية: COMPLEX GLYCEROL KINASE DEFICIENCY, Biochemistry, biology, business.industry, Adrenal hypoplasia, Genetics, biology.protein, Medicine, Glycerol kinase deficiency, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af98f02e3609f64e9da17cfeb9c57c06
https://doi.org/10.1111/j.1399-0004.1986.tb00777.x

المؤلفون: ter Haar B, Wieringa B, Hustinx T, Scheres J, Renier W

المصدر: Clinical Genetics. 27:522-523

مصطلحات موضوعية: COMPLEX GLYCEROL KINASE DEFICIENCY, biology, Biochemistry, Genetics, biology.protein, Glycerol kinase deficiency, Genetics (clinical), Chromosomal Deletion, X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76d89b1078543fb456f435768e3daaa3
https://doi.org/10.1111/j.1399-0004.1985.tb00244.x

المؤلفون: Norio Niikawa, Kunio Ozutsumi, Hidefumi Tonoki, Naofumi Kjii, Shogo Nagano, Kenji Fujieda

المصدر: The Journal of pediatrics. 117(2 Pt 1)

مصطلحات موضوعية: COMPLEX GLYCEROL KINASE DEFICIENCY, Male, biology, business.industry, Biopsy, Muscles, Phosphotransferases, Infant, Newborn, Infant, Muscle Proteins, Molecular biology, Muscular Dystrophies, Staining, Dystrophin, Biochemistry, Glycerol Kinase, Pediatrics, Perinatology and Child Health, biology.protein, Medicine, Humans, business, DNA Probes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98faef1fe4157440d1923943c3955c8
https://pubmed.ncbi.nlm.nih.gov/2166152

المؤلفون: Edward R. B. McCabe, Jeffrey A. Towbin, De-Ann M. Pillers, William K. Seltzer, Jeffrey S. Chamberlain, Darong Wu

المصدر: Genomics. 7(3)

مصطلحات موضوعية: Male, X Chromosome, Albinism, Duchenne muscular dystrophy, Centromere, DNA Mutational Analysis, Biology, Contiguous gene syndrome, Muscular Dystrophies, chemistry.chemical_compound, Glycerol Kinase, Genetics, medicine, Humans, Deletion mapping, COMPLEX GLYCEROL KINASE DEFICIENCY, Phosphotransferases, Chromosome Mapping, Glycerol kinase deficiency, Syndrome, medicine.disease, Molecular biology, genomic DNA, Blotting, Southern, chemistry, Congenital adrenal hypoplasia, biology.protein, Chromosome Deletion, DNA, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9c9548cd71cf0229ab20a89d510989
https://pubmed.ncbi.nlm.nih.gov/2163974

المؤلفون: I. Katayama, M. Yoshimoto, F. Sueyoshi, T. Baba, Y. Abe

المصدر: Dermatology. 198:98-99

مصطلحات موضوعية: COMPLEX GLYCEROL KINASE DEFICIENCY, biology, business.industry, Chromosome, Late onset atopic dermatitis, Glycerol kinase deficiency, Dermatology, Atopic dermatitis, medicine.disease, Immunology, biology.protein, medicine, business, Skin barrier function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b5b9cf90476eae8f222d2f70f5809922
https://doi.org/10.1159/000018077

المؤلفون: Shinpei Fukuda, Lchiro Matsuda, Sawako Hayashi, Masaaki Yoshimoto, Tsuneyoshi Baba, Norio Niikawa, Tadashi Matsumoto, Yoshiro Tsuji

المصدر: Acta paediatrica Japonica : Overseas edition. 30(5)

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Duchenne muscular dystrophy, Short stature, Internal medicine, Glycerol Kinase, medicine, Humans, Gene, COMPLEX GLYCEROL KINASE DEFICIENCY, biology, business.industry, Phosphotransferases, Infant, Newborn, Nucleic Acid Hybridization, Glycerol kinase deficiency, DNA, Syndrome, Gonadotropin deficiency, medicine.disease, Gonadotropin secretion, Chromosome Banding, Endocrinology, Congenital adrenal hypoplasia, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, business, Gonadotropins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b412b7eaa23f631af7e049ec30a1c3
https://pubmed.ncbi.nlm.nih.gov/2849860