المؤلفون: Wei De Lin, Hsuan-Chieh Liao, Hao Chuan Liu, Chung Hsing Wang, Fuu Jen Tsai, Chuan Chi Chiang, Min Ju Chan, Yann Jang Chen, He Jin Gao, Shu Min Kao, Chia Feng Yang, Yu Hsiu Huang, Chun Kai Huang, Dau Ming Niu

المصدر: Clinica chimica acta; international journal of clinical chemistry. 431

مصطلحات موضوعية: Male, Quality Control, medicine.medical_specialty, Pathology, Enzyme deficiency, Clinical Biochemistry, Taiwan, Pilot Projects, Tandem mass spectrometry, Biochemistry, Gastroenterology, Neonatal Screening, Tandem Mass Spectrometry, Internal medicine, medicine, Lysosomal storage disease, Humans, Multiplex, Dried blood, Newborn screening, Gaucher Disease, Chemistry, Glycogen Storage Disease Type II, Biochemistry (medical), Infant, Newborn, Reproducibility of Results, General Medicine, DNA, Sequence Analysis, DNA, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Fabry Disease, Female, Dried Blood Spot Testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7baaa7cd42392f0157239e85a4b9cf0Test
https://pubmed.ncbi.nlm.nih.gov/24513544Test

المؤلفون: Milan Elleder, Guy T.N. Besley, Sylke Maas, Dietrich Seidel, Pia Lohse, Peter Lohse, Jean M Kirk

المصدر: Journal of Lipid Research, Vol 41, Iss 1, Pp 23-31 (2000)

مصطلحات موضوعية: Male, Heterozygote, Hyperlipoproteinemias, Recombinant Fusion Proteins, genotype, QD415-436, Biology, Lysosomal acid lipase deficiency, Compound heterozygosity, medicine.disease_cause, Biochemistry, Exon, Endocrinology, lipid metabolism, medicine, Lysosomal storage disease, Humans, Child, DNA Primers, Genetics, Mutation, Base Sequence, Cholesterol Ester Storage Disease, Point mutation, Wolman Disease, Cell Biology, Cholesterol ester storage disease, Exons, medicine.disease, Molecular biology, Exon skipping, lysosomal storage disease, Child, Preschool, Splenomegaly, Female, enzyme deficiency, point mutation, Polymorphism, Restriction Fragment Length, Hepatomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b283630297d6fa76351e3f4336c78f43Test
http://www.sciencedirect.com/science/article/pii/S0022227520320708Test

المؤلفون: George Ntaios, C. Tomos, Anastasia Chatzinikolaou, Paraskevi Karalazou, Stiliani Alexiou-Daniel, C. Manolopoulos, A. Nikolaidou

المصدر: Internal Medicine Journal. 38:204-206

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, Enzyme deficiency, Greece, business.industry, Population, nutritional and metabolic diseases, Physiology, Female sex, medicine.disease, Glucosephosphate Dehydrogenase Deficiency, hemic and lymphatic diseases, parasitic diseases, Prevalence, Internal Medicine, Geographic regions, medicine, Humans, Female, Greek population, business, education, Glucose-6-phosphate dehydrogenase deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cfcca98d7b8e39eb9f512dab599749aTest
https://doi.org/10.1111/j.1445-5994.2007.01618.xTest

المؤلفون: Kenji Fujieda, Jun Nakae, Aiko Takase, Toshihiro Tajima, Yoshikazu Nishi, Mari Murashita

المصدر: Hormone Research. 47:49-53

مصطلحات موضوعية: Hirsutism, endocrine system, animal structures, Enzyme deficiency, Adolescent, Endocrinology, Diabetes and Metabolism, Puberty, Precocious, Dehydrogenase, Biology, Polymerase Chain Reaction, Endocrinology, Adrenocorticotropic Hormone, Polymorphism (computer science), medicine, Humans, In patient, Beta-hydroxysteroid dehydrogenase, Mild form, Child, Gene, Polymorphism, Single-Stranded Conformational, hirsutism, DNA Primers, Base Sequence, Progesterone Reductase, Sequence Analysis, DNA, medicine.disease, Molecular biology, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd429c9bb784f88ca40559608bcc2b91Test
https://doi.org/10.1159/000185430Test

المؤلفون: Or Kakhlon, Tatsuo Terashima, Hasan O. Akman, Otto Baba, Salvatore DiMauro, Naomi Feinstein, Yan Liu, Hava Glickstein, Alexander Lossos

المصدر: Journal of neurochemistry. 127(1)

مصطلحات موضوعية: Primary Cell Culture, Apoptosis, Real-Time Polymerase Chain Reaction, Biochemistry, Glycogen debranching enzyme, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Glycogen phosphorylase, Adenosine Triphosphate, Transduction, Genetic, 1,4-alpha-Glucan Branching Enzyme, Glycogen branching enzyme, Animals, Humans, Lymphocytes, Enzyme Inhibitors, Phosphorylation, RNA, Small Interfering, Glycogen synthase, GSK3B, Glucans, Aged, Cerebral Cortex, Glycogen binding, biology, Glycogen, TOR Serine-Threonine Kinases, Fibroblasts, Glycogen Storage Disease, Rats, Glycogen Branching Enzyme Deficiency, Glycogen Synthase, chemistry, Microscopy, Fluorescence, Starvation, biology.protein, Female, Neurotoxicity Syndromes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38ad765c6af5df82a667c42ac20c695Test
https://pubmed.ncbi.nlm.nih.gov/23607684Test

المؤلفون: Gareth Jevon, Milton J. Finegold

المصدر: Pediatric Pathology. 14:709-721

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Enzyme deficiency, Biopsy, Biology, Pathology and Forensic Medicine, Hepatic glycogen storage, Predictive Value of Tests, Fibrosis, medicine, Humans, Glycogen storage disease, Child, medicine.diagnostic_test, Infant, Reproducibility of Results, nutritional and metabolic diseases, Histology, Glycogen Storage Disease, medicine.disease, Predictive value, Liver, Child, Preschool, Predictive value of tests, Pediatrics, Perinatology and Child Health, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a63d711c51d4b897fabee58652bd2c0Test
https://doi.org/10.3109/15513819409023343Test

المؤلفون: L Lennard, S C Mayou, Alexander Vincent Anstey, J.D.T. Kirby

المصدر: Journal of the Royal Society of Medicine. 85:752-756

مصطلحات موضوعية: Polymorphism, Genetic, Enzyme deficiency, Thiopurine methyltransferase, biology, Pancytopenia, business.industry, Azathioprine, Methyltransferases, General Medicine, Middle Aged, medicine.disease, Pathophysiology, Immunology, biology.protein, Humans, Medicine, Female, Thioguanine, business, Research Article, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f1323dd614c55d14a0fb8c7c8a3de23Test
https://doi.org/10.1177/014107689208501213Test

المؤلفون: D.C. Downey

المصدر: Medical Hypotheses. 39:185-190

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Multiple Sclerosis, Enzyme deficiency, Models, Biological, Hepatic porphyria, medicine, Chronic fatigue syndrome, Humans, Fatigue Syndrome, Chronic, business.industry, Multiple sclerosis, General Medicine, Middle Aged, medicine.disease, Pathophysiology, Porphyrias, Hepatic, Surgery, Poliomyelitis, Female, Copper test, business, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d4d0cdbe9ebcfc299a4fb94ea8b81bTest
https://doi.org/10.1016/0306-9877Test(92)90184-e

المؤلفون: BLASI, PAOLA, CALDAROLA, SARA, NOVELLETTO, ANDREA, MALASPINA, PATRIZIA, Palmerio, F, Rizzo, C, Carrozzo, R, Gibson, K. M, Deodato, F, Cappa, M, Dionisi_Vici, C

المساهمون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

مصطلحات موضوعية: succinate semialdehyde dehydrogenase, brain cortex atrophy, case report, chemical analysi, clinical feature, consanguinity, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, family history, female, gene location, gene mutation, genotype, human, infant, letter, molecular genetic, muscle hypotonia, phenotype, priority journal, psychomotor disorder, reverse transcription polymerase chain reaction, speech disorder, strabismu, Base Sequence, DNA, Mental Retardation, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16542398; info:eu-repo/semantics/altIdentifier/wos/WOS:000235840300018; volume:69; issue:3; firstpage:294; lastpage:296; journal:CLINICAL GENETICS; http://hdl.handle.net/2108/37937Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-33644799832&partnerID=40&md5=13ffd8e8cc20db3c46e7c47d6434d830Test

الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00579.xTest
http://hdl.handle.net/2108/37937Test

المؤلفون: David Nemeth, Michelle Lane, Jan Liebelt, M. Louise Hull, Deanne Feil, William M. Hague, Chris Wilkinson

المصدر: Fertility and sterility. 91(6)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Enzyme deficiency, medicine.medical_treatment, media_common.quotation_subject, Fertility, Fertilization in Vitro, Biology, Mitochondrial fatty acid, Pregnancy, Internal medicine, medicine, Humans, Carnitine, Sperm Injections, Intracytoplasmic, Amenorrhea, Menstrual Cycle, media_common, Ivf treatment, In vitro fertilisation, Carnitine O-Palmitoyltransferase, Obstetrics, Infant, Newborn, Obstetrics and Gynecology, Membrane Transport Proteins, medicine.disease, Endocrinology, Reproductive Medicine, Mutation, Female, Subsequent pregnancy, Live Birth, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b06915a820336a12f53bc3564ec8f6Test
https://pubmed.ncbi.nlm.nih.gov/19362304Test