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المؤلفون: Hyung-Ok Lee, Christiana Salami, Ronald G. Crystal, Dolan Sondhi, Warren D. Kruger, Stephen M. Kaminsky
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Male, inorganic chemicals, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Homocysteine, Genetic enhancement, Genetic Vectors, Cystathionine beta-Synthase, Gene Expression, Homocystinuria, Article, Virus, Mice, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Animals, Genetics (clinical), Mice, Knockout, Methionine, biology, ATP synthase, business.industry, organic chemicals, Gene Transfer Techniques, nutritional and metabolic diseases, Genetic Therapy, Dependovirus, medicine.disease, Cystathionine beta synthase, Enzyme assay, Disease Models, Animal, Phenotype, Endocrinology, Liver, chemistry, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903abf749bb81a436f41bc16add13551Test
https://doi.org/10.1002/jimd.12437Test -
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المؤلفون: An I. Jonckheere, Sandra D. K. Kingma
المصدر: Journal of inherited metabolic disease
مصطلحات موضوعية: Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Bone disease, Mucopolysaccharidosis I, Disease, Severity of Illness Index, Mucopolysaccharidosis type I, Neonatal Screening, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, skin and connective tissue diseases, Genetics (clinical), Newborn screening, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Disease Management, nutritional and metabolic diseases, Genetic Therapy, Enzyme replacement therapy, medicine.disease, Pathophysiology, Transplantation, Early Diagnosis, Phenotype, Intercellular Signaling Peptides and Proteins, Human medicine, Bone Diseases, Stem cell, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80cb4d2eb2eb801156cf0d726c2abba8Test
https://doi.org/10.1002/jimd.12431Test -
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المؤلفون: Ari Zimran, Shoshana Revel-Vilk, Reut Rotem, Roei Kofman, Yael Cohen, Dafna Frydman, Sorina Grisaru-Granovsky
المصدر: Journal of Inherited Metabolic Disease. 44:1165-1173
مصطلحات موضوعية: Risk, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Disease, Early Postpartum Hemorrhage, Gee, Miscarriage, 03 medical and health sciences, Pregnancy, Genetics, medicine, Humans, Enzyme Replacement Therapy, Generalized estimating equation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Gaucher Disease, Obstetrics, business.industry, Postpartum Hemorrhage, 030305 genetics & heredity, Confounding, Pregnancy Outcome, nutritional and metabolic diseases, Enzyme replacement therapy, medicine.disease, Abortion, Spontaneous, Pregnancy Complications, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4221d612fc60cd6ca8bda03f68f1b85Test
https://doi.org/10.1002/jimd.12382Test -
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المؤلفون: Eissa Faqeih, Jennifer Friedman, Hudson H. Freeze, Kierstin N Keller, Miao He, Earnest James Paul Daniel, Jie Chen, Hind Alsharhan, Eniko K. Pivnick, Christina Lam, Nicole Engelhardt, Amal Alhashem, Michael J. Bamshad, Deborah A. Nickerson, Pengfei Liu, Kimiyo Raymond, Pamela A Mazzeo, Jill A. Rosenfeld, Bobby G. Ng, Andrew C. Edmondson
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycan, Microcephaly, Adolescent, Genotype, Bioinformatics, Mannosyltransferases, Article, Young Adult, Epilepsy, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Endocrine system, Genetics (clinical), Immunodeficiency, biology, Neural tube defect, business.industry, Infant, Newborn, Neural tube, Infant, medicine.disease, Hypotonia, carbohydrates (lipids), Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2ccc5c959676b58b2731f7c6d8e242Test
https://doi.org/10.1002/jimd.12367Test -
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المؤلفون: Sven F. Garbade, Matthias R. Baumgartner, Additional Contributors from E-Imd, Friederike Hörster, Tanja Plessl, Ali Tunç Tuncel, Stefan Kölker, Florian Gleich, Sean Froese
المصدر: Journal of Inherited Metabolic Disease. 44:193-214
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Methylmalonic acidemia, Methylmalonic acid, Renal function, Urine, Mitochondrial Membrane Transport Proteins, Gastroenterology, Cobalamin, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Methylmalonyl-CoA Mutase, medicine.disease, Hydroxocobalamin, 3. Good health, Vitamin B 12, Cross-Sectional Studies, Methylmalonic aciduria, chemistry, Mutation, Kidney Failure, Chronic, Chronic renal failure, Female, business, Metabolism, Inborn Errors, Glomerular Filtration Rate, Methylmalonic Acid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a828f9436689124e33f068ca8beae626Test
https://doi.org/10.1002/jimd.12297Test -
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المؤلفون: Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan
المصدر: J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, medicine.medical_treatment, Biology, N-Acetylglucosaminyltransferases, Article, purl.org/becyt/ford/1 [https], chemistry.chemical_compound, Congenital Disorders of Glycosylation, N-linked glycosylation, N-LINKED GLYCOSYLATION, Genetics, medicine, Humans, CONGENITAL DISORDERS OF GLYCOSYLATION, purl.org/becyt/ford/1.6 [https], EPILEPSY, Genetics (clinical), Exome sequencing, Transferrin, Infant, medicine.disease, WHOLE EXOME SEQUENCING, Epileptic spasms, Uridine diphosphate, chemistry, Child, Preschool, Mutation, Medical genetics, Female, Diet, Ketogenic, Spasms, Infantile, Congenital disorder of glycosylation, Biomarkers, Ketogenic diet
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3Test
https://doi.org/10.1002/jimd.12290Test -
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المؤلفون: Neus Roca-Ayats, Laura De-Ugarte, Daniel Grinberg, Jenny Serra-Vinardell, Lluïsa Vilageliu, Susanna Balcells
المصدر: Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Pathology, medicine.medical_specialty, Hereditary multiple exostoses, Osteoclasts, Osteochondromatosis, Fèmur, Bone tissue, Bone remodeling, 03 medical and health sciences, Chondrocytes, Metabolic Diseases, Osteogenesis, Genetics, medicine, Animals, Humans, Femur, Endochondral ossification, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Bone Development, Gaucher Disease, Diphosphonates, business.industry, Cartilage, 030305 genetics & heredity, Mesenchymal stem cell, medicine.disease, medicine.anatomical_structure, Intramembranous ossification, Bone Remodeling, business, Fractures, Femoral Fractures, Exostoses, Multiple Hereditary
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de303aea43f3fdc559603b289666facTest
https://doi.org/10.1002/jimd.12097Test -
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المؤلفون: Miriam Wimmer, Darius Ebrahimi-Fakhari, Robert Behne, Julian Teinert
المصدر: Journal of Inherited Metabolic Disease. 43:51-62
مصطلحات موضوعية: Movement disorders, Hereditary spastic paraplegia, Developmental Disabilities, Central nervous system, Biology, Cataract, Epilepsy, Autophagy, Genetics, medicine, Humans, Vici syndrome, Cognitive decline, Child, Genetics (clinical), Spastic Paraplegia, Hereditary, Neurodegeneration, Brain, Proteins, Neurodegenerative Diseases, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Agenesis of Corpus Callosum, medicine.symptom, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f055a16d7adad06b9e527cedfd0cd9d2Test
https://doi.org/10.1002/jimd.12084Test -
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المؤلفون: Saskia B. Wortmann, Johannes A. Mayr
المصدر: J. Inherit. Metab. Dis. 42, 237-242 (2019)
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: fish odor disease, Anemia, Reviews, Physiology, Review, Choline, Epilepsy, Fish Odor Disease, Hereditary Spastic Paraparesis, Uridine, 03 medical and health sciences, chemistry.chemical_compound, choline, Genetics, medicine, Genetics (clinical), 030304 developmental biology, Subclinical infection, 0303 health sciences, hereditary spastic paraparesis, business.industry, 030305 genetics & heredity, Fatty liver, Organ dysfunction, Congenital myasthenic syndrome, medicine.disease, ddc, Parenteral nutrition, chemistry, uridine, GNMT, epilepsy, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758d39131a9878e4d8c47c232c44fde2Test
https://doi.org/10.1002/jimd.12011Test -
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المؤلفون: Young Mok Lee, David A. Weinstein, Jun-Ho Cho
المصدر: Journal of Inherited Metabolic Disease. 44:118-128
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, G6PC, Carcinoma, Hepatocellular, Glycogenolysis, Carcinogenesis, Genetic Vectors, Cellular homeostasis, Glycogen Storage Disease Type I, Pathogenesis, Mice, Autophagy, Genetics, medicine, Animals, Homeostasis, Humans, Glucose homeostasis, Genetics (clinical), Mice, Knockout, business.industry, Liver Neoplasms, nutritional and metabolic diseases, Genetic Therapy, Dependovirus, Hepatocellular adenoma, medicine.disease, Disease Models, Animal, Glucose, Liver, Glucose-6-Phosphatase, Cancer research, Signal transduction, business, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d35e979d0605d57ca5b30673b893e8Test
https://doi.org/10.1002/jimd.12267Test