المؤلفون: Betul Danisman, Erdogan Bulut, Özlem Tuğçe Çilingir Kaya, Narin Derin, Serap Sirvanci, Mustafa Yilmaz, Nuray Ensari, Bahri Gezgin, Özer Erdem Gür, Nevreste Didem Sonbay Yilmaz, Nurdan Aygener

المصدر: Acta Oto-Laryngologica. 139:677-684

مصطلحات موضوعية: Male, medicine.medical_specialty, Auditory Pathways, Enzyme deficiency, Hearing loss, Biotin deficiency, macromolecular substances, 03 medical and health sciences, chemistry.chemical_compound, Fetus, 0302 clinical medicine, Biotin, Pregnancy, Internal medicine, Evoked Potentials, Auditory, Brain Stem, Animals, Lactation, Medicine, Rats, Wistar, 030223 otorhinolaryngology, Organ of Corti, Biotinidase Deficiency, business.industry, musculoskeletal, neural, and ocular physiology, General Medicine, medicine.disease, Disease Models, Animal, Microscopy, Electron, Endocrinology, nervous system, Otorhinolaryngology, chemistry, 030220 oncology & carcinogenesis, Biotinidase, Female, medicine.symptom, business, Neurological problems

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fade014c82791de3295e4d4fc78f109Test
https://doi.org/10.1080/00016489.2019.1614665Test

المؤلفون: Neziha Kaabachi, Zeineb Ben Ameur, Hajer Mansouri, Sonia Abdelhak, Neji Tebib, Sana Ben Messaoud, Yosra Sassi, Rim Ben Abdelaziz, Hela Boudabous, Hatem Azzouz, Amel Ben Chehida, Kaouthar Hakim, Mohamed Slim Abdelmoula, Nadia Ben Ali

المساهمون: Hôpital La Rabta [Tunis], Université de Tunis El Manar (UTM), Hôpital Charles Nicolle [Tunis], Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)

المصدر: Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter, 2018, ⟨10.1515/jpem-2018-0151⟩

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Longitudinal study, Tunisia, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, debranching enzyme deficiency, neuromuscular diseases, Glycogen storage disease type III, Hepatic Complication, Short stature, Gastroenterology, 03 medical and health sciences, Liver disease, Glycogen Storage Disease Type III, 0302 clinical medicine, Endocrinology, hyperlipemia, Internal medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], medicine, Humans, Longitudinal Studies, Child, Retrospective Studies, 2. Zero hunger, business.industry, Hypertriglyceridemia, Starch, medicine.disease, Prognosis, Obesity, 3. Good health, Diet, nutrition, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, liver disease, business, cardiomyopathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10ad9a138d60f18cf74e1653b42b1c8Test
https://pubmed.ncbi.nlm.nih.gov/30110253Test

المؤلفون: S. Amadori, Anna Tarzia, Paolo Cianciulli, Patrizia Caprari, Donatella Maffi, Salvati Am, Maria Pia Caforio, Maria Teresa Pasquino

المصدر: Annals of Hematology. 80:41-44

مصطلحات موضوعية: Male, Hemolytic anemia, Anemia, Hemolytic, medicine.medical_specialty, hyperbilirubinemia, Anemia, Dehydrogenase, Biology, hemic and lymphatic diseases, Internal medicine, erythrocyte enzyme deficiency, Diseases in Twins, Twins, Dizygotic, medicine, Humans, 6-phosphogluconate dehydrogenase, 6PGD, hemolytic anemia, Phosphogluconate Dehydrogenase, Hematology, General Medicine, Jaundice, medicine.disease, Hemolysis, Red blood cell, medicine.anatomical_structure, Endocrinology, Italy, Female, 6-phosphogluconate dehydrogenase deficiency, medicine.symptom, Settore MED/15 - Malattie del Sangue, Pyruvate kinase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1b7540e1b6230bc614fc008a3d9bc3Test
https://doi.org/10.1007/s002770000233Test

المؤلفون: Joachim Weis, Matthias Vorgerd, Andreas R. Janecke, J. Michael Schröder, Kay Nolte

المصدر: Acta neuropathologica. 116(5)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Cardiomyopathy, Biology, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Glycogen Storage Disease Type IV, Microscopy, Electron, Transmission, Sural Nerve, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, medicine, Humans, Glycogen storage disease type IV, Floppy Infant, Muscle, Skeletal, Glucans, Hyaline, Inclusion Bodies, Infant, Newborn, Infant, Anatomy, medicine.disease, Spinal cord, Hypotonia, Glycogen Branching Enzyme Deficiency, medicine.anatomical_structure, Spinal Cord, Mutation, Female, Neurology (clinical), medicine.symptom, Myofibril

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ec3c0eebf37e91b6267928495394b7Test
https://pubmed.ncbi.nlm.nih.gov/18661138Test

المؤلفون: Berkan Gürakan, Aylin Tarcan, Hasan Kilicdag, Filiz Tiker, Hande Gulcan

المصدر: Clinical pediatrics. 45(3)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Enzyme deficiency, Neonatal intensive care unit, Turkey, Bilirubin, Gestational Age, Total serum bilirubin, Medical Records, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, Intensive Care Units, Neonatal, Medicine, Humans, Retrospective Studies, business.industry, Infant, Newborn, Gestational age, Jaundice, Phototherapy, Infant newborn, Jaundice, Neonatal, Glucosephosphate Dehydrogenase Deficiency, chemistry, Blood Group Incompatibility, Pediatrics, Perinatology and Child Health, Female, Thyroid function, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ca1886e49d99fcbe37ef40e8f7a8e3Test
https://pubmed.ncbi.nlm.nih.gov/16708139Test

المؤلفون: A. Alegria, André Cunha, Maria da Luz Vale Dias, E. Martins, I. Maire, M. L. Cardoso

المصدر: Journal of inherited metabolic disease. 22(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Hydrops Fetalis, Diagnosis, Differential, Glycogen Storage Disease Type IV, Fatal Outcome, Cellular storage, Hydrops fetalis, Internal medicine, Genetics, medicine, Humans, Glycogen storage disease type IV, Pathological, Genetics (clinical), Fetus, Branching enzyme deficiency, business.industry, Infant, Newborn, medicine.disease, Hypotonia, Endocrinology, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e65fcacce1b3f5d2db9033cb636b68Test
https://pubmed.ncbi.nlm.nih.gov/10384399Test

المؤلفون: Raul Marin, Ellie Connick

المصدر: Archives of physical medicine and rehabilitation. 78(1)

مصطلحات موضوعية: myalgia, medicine.medical_specialty, Enzyme deficiency, business.industry, Tetanus, Rehabilitation, Metabolic disorder, Skeletal muscle, Physical Therapy, Sports Therapy and Rehabilitation, AMP deaminase, Middle Aged, medicine.disease, AMP Deaminase, medicine.anatomical_structure, Endocrinology, Internal medicine, Fibromyalgia, medicine, Humans, Female, medicine.symptom, Diagnostic Errors, business, Myofascial Pain Syndromes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a855b711047298007b575e7942b8f2bTest
https://pubmed.ncbi.nlm.nih.gov/9014967Test

المؤلفون: Akira Hirono, Shiro Miwa, Hiroshi Fujii, K. Hirono, H. Karro, Veronica Harsányi, Éva Gyodi, Susan R. Hollán, Marianna Inselt-Kovács

المصدر: Human genetics. 92(5)

مصطلحات موضوعية: Hemolytic anemia, Adult, Male, medicine.medical_specialty, Heterozygote, Enzyme deficiency, Erythrocytes, Neurological disorder, Biology, Hyperkinesis, Anemia, Hemolytic, Congenital, Triosephosphate isomerase, Central Nervous System Diseases, Internal medicine, parasitic diseases, Genetics, medicine, Humans, Age of Onset, Child, Triosephosphate isomerase deficiency, Genetics (clinical), Homozygote, medicine.disease, Red blood cell, medicine.anatomical_structure, Endocrinology, Dyskinesia, Dihydroxyacetone Phosphate, Female, medicine.symptom, Congenital hemolytic anemia, Metabolism, Inborn Errors, Triose-Phosphate Isomerase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26ea25eaa2f4b34dc39ed7814c9f5f6Test
https://pubmed.ncbi.nlm.nih.gov/8244340Test

المؤلفون: Grace K. Penfold, Eftihia Cayanis, Lorna G. Mac Dougall, Ida Freiman

المصدر: British Journal of Haematology. 37:363-391

مصطلحات موضوعية: Anemia, Hemolytic, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Biology, Asymptomatic, South Africa, Family studies, Glucosephosphate Isomerase, Internal medicine, medicine, Humans, Thermolabile, Child, chemistry.chemical_classification, Genetics, Glucose-6-Phosphate Isomerase, Wild type, Heterozygote advantage, Anemia, Hemolytic, Congenital Nonspherocytic, Hematology, Pedigree, Enzyme, Endocrinology, chemistry, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e14de763848bbca7697ebe7257590Test
https://doi.org/10.1111/j.1365-2141.1977.tb01007.xTest

المؤلفون: Schwartz Rp, W.K. Hall, Blankenship Pr, R A Roesel

المصدر: Southern Medical Journal. 68:301-302

مصطلحات موضوعية: Adult, Galactosemias, Male, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Exchange Transfusion, Whole Blood, Hemolysis, Internal medicine, medicine, Humans, Transferase, Confusion, chemistry.chemical_classification, biology, business.industry, Galactosemia, Infant, General Medicine, Uridyl transferase, medicine.disease, Nucleotidyltransferases, Enzyme assay, Enzyme, Endocrinology, chemistry, biology.protein, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770dd6571446e9bb3fd23e1aacc56961Test
https://doi.org/10.1097/00007611-197503000-00010Test