المؤلفون: Yazıcı, H., Çopur, O., Canbay, E., Durmaz, B., Canda, E., Ucar, S.K., Coker, M.

مصطلحات موضوعية: Mucopolysaccharidosis, Inflammation, Paraoxonase, aryldialkylphosphatase, catalase, chitotriosidase, cytokine, dermatan sulfate, gamma interferon, glutathione peroxidase, glycosaminoglycan, immunoglobulin enhancer binding protein, interleukin 1alpha, interleukin 1beta, interleukin 6, superoxide dismutase, adolescent, adult, antioxidant activity, Article, child, clinical article, controlled study, enzyme deficiency, enzyme replacement, erythrocyte, female, heart disease, human, Hunter syndrome

العلاقة: Cytokine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/92746Test; https://doi.org/10.1016/j.cyto.2023.156410Test; 173

الإتاحة: https://doi.org/10.1016/j.cyto.2023.156410Test
https://hdl.handle.net/11454/92746Test

المؤلفون: Canda E., Yazici H., Altınok Y.A., Ucar S.K., Coker M.

مصطلحات موضوعية: uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical Article, consanguineous marriage, differential diagnosis, enzyme activity, aspartate aminotransferase, genetic analysis, genetic association, human, alanine aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic screening, glucose urine level

العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79419Test; https://doi.org/10.1002/jmd2.12263Test; 63; 25; 28

الإتاحة: https://doi.org/10.1002/jmd2.12263Test
https://hdl.handle.net/11454/79419Test

المؤلفون: Yazici H., Canda E., Altınok Y.A., Ucar S.K., Coker M.

مصطلحات موضوعية: alanine aminotransferase, aspartate aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical article, consanguineous marriage, differential diagnosis, enzyme activity, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic analysis, genetic association, genetic screening, glucose urine level, head circumference

العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12263Test; https://hdl.handle.net/11454/79419Test; 63; 25; 28; 2-s2.0-85123420633

الإتاحة: https://doi.org/10.1002/jmd2.12263Test
https://hdl.handle.net/11454/79419Test

المؤلفون: Cafaro A., Pigliasco F., Barco S., Penco F., Schena F., Caorsi R., Volpi S., Tripodi G., Gattorno M., Cangemi G.

المساهمون: Cafaro, A., Pigliasco, F., Barco, S., Penco, F., Schena, F., Caorsi, R., Volpi, S., Tripodi, G., Gattorno, M., Cangemi, G.

مصطلحات موضوعية: Adenosine Deaminase, Autoinflammatory disease, DADA2, Enzyme deficiency, LC-MS/MS, Adolescent, Adult, Agammaglobulinemia, Biomarker, Child, Dried Blood Spot Testing, Female, Homozygote, Human, Male, Middle Aged, Mutation, Phenotype, Severe Combined Immunodeficiency, Tandem Mass Spectrometry, Tumor Necrosis Factor Inhibitors

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34577178; info:eu-repo/semantics/altIdentifier/wos/WOS:000701878400001; volume:26; firstpage:5707; lastpage:5707; numberofpages:1; journal:MOLECULES; https://hdl.handle.net/11567/1078866Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115435367

الإتاحة: https://doi.org/10.3390/molecules26185707Test
https://hdl.handle.net/11567/1078866Test

المؤلفون: Nitschke, S., Sullivan, M. A., Mitra, S., Marchioni, C. R., Lee, J. P. Y., Smith, B. H., Ahonen, S., Wu, J., Chown, E. E., Wang, P., Petković, S., Zhao, X., Digiovanni, L. F., Perri, A. M., Israelian, L., Grossman, T. R., Kordasiewicz, H., Vilaplana, Francisco, 1979, Iwai, K., Nitschke, F., Minassian, B. A.

المصدر: Brain. 145(7):2361-2377

مصطلحات موضوعية: antisense oligonucleotide (ASO) therapy, glycogen synthase, neuroinflammation, PGBM1 (polyglucosan body myopathy 1), RBCK1/HOIL1, 4 alpha glucan branching enzyme, amylopectin, glucan, glycogen, hydroxyl group, phosphatase, ubiquitin, ubiquitin protein ligase E3, non receptor protein tyrosine phosphatase, ubiquitin protein ligase, animal experiment, animal model, Article, cardiac muscle, controlled study, down regulation, enzyme deficiency, female, gait, glycogen muscle level, glycogen storage disease type 4, grip strength, histology, male, motor neuron disease, mouse, myoclonus epilepsy, nervous system inflammation, nonhuman, nonsense mediated mRNA decay, open field test, physical chemistry, protein depletion, rotarod test, spinal cord, animal, genetics, glycogen storage disease, mammal, metabolism, neurologic disease, pathology, Animals, Down-Regulation, Glucans, Glycogen Storage Disease Type IV, Lafora Disease, Mammals, Mice, Myoclonic Epilepsies, Progressive, Nervous System Diseases, Protein Tyrosine Phosphatases, Non-Receptor, Ubiquitin-Protein Ligases

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-321865Test

المؤلفون: Tastemel Ozturk T., Canpolat N., Saygili S., Bayrakci U.S., Soylemezoglu O., Ozaltin F., Topaloglu R.

مصطلحات موضوعية: Adrenal insufficiency, Nephrotic syndrome, SGPL1, Sphingolipidosis, Sphingosine-1-phosphate lyase, steroid, lyase, SGPL1 protein, human, sphingosine 1-phosphate lyase (aldolase), Article, child, chronic kidney failure, clinical article, deceased donor, enzyme deficiency, female, focal glomerulosclerosis, gene, gene mutation, hypothyroidism, ichthyosis, immune deficiency, infant, kidney transplantation, lipidosis, male, newborn, preschool child, rare disease

العلاقة: Pediatric Nephrology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1007/s00467-022-05656-5Test; https://hdl.handle.net/20.500.12831/19456Test; 38; 711; 719; 2-s2.0-85132744005

الإتاحة: https://doi.org/10.1007/s00467-022-05656-5Test
https://doi.org/20.500.12831/19456Test
https://hdl.handle.net/20.500.12831/19456Test

المؤلفون: Episkopou, H., Benyelles, M., O'Donohue, M.-F., Kermasson, L., Frange, P., Poulain, F., Burcu Belen, F.

مصطلحات موضوعية: p53, Høyeraal–Hreidarsson syndrome, PARN, rRNA, shelterin, messenger RNA, polynucleotide adenylyltransferase, protein p53, ribosome RNA, exoribonuclease, poly(A)-specific ribonuclease, animal experiment, Article, biogenesis, child, chromosomal parameters, clinical article, controlled study, down regulation, enzyme deficiency, female, fibroblast, gene, gene expression, gene knockout, gene mutation, genetic stability, genetic transcription, human, human cell

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/30141Test; https://doi.org/10.15252/emmm.201810201Test; 11; 2-s2.0-85067393765; WOS:000474265000003

الإتاحة: https://doi.org/10.15252/emmm.201810201Test
https://hdl.handle.net/11499/30141Test

المؤلفون: Yasemin Atik Altınok, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker

المصدر: JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 25-28 (2022)

مصطلحات موضوعية: Sanger sequencing, genetic association, Endocrinology, Diabetes and Metabolism, consanguineous marriage, Case Report, genetic analysis, Case Reports, QH426-470, physical examination, blood level, preschool child, whole exome sequencing, galactokinase, Leloir pathway, aspartate aminotransferase, differential diagnosis, gene mutation, bilirubin blood level, child, clinical article, education.field_of_study, Chemistry, genetic screening, unclassified drug, enzyme activity, female, Biochemistry, cataract, head circumference, eye examination, galactose 1 phosphate uridylyltransferase, enzyme deficiency, Galactose mutarotase, galactose mutarotase, hypermetropia, alanine aminotransferase, galactose, gene frequency, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Article, male, Genetics, Internal Medicine, GALM, liver function test, human, education, glucose urine level, uridine diphosphate glucose 4 epimerase, birth weight, RC648-665, enzyme, blood cell count, homozygosity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec443352d6f7d362fa4310df5fd3fcecTest
http://europepmc.org/articles/PMC8743342Test

المؤلفون: Alessia Cafaro, Gino Tripodi, Marco Gattorno, Sebastiano Barco, Francesca Schena, Giuliana Cangemi, Stefano Volpi, Federica Pigliasco, Federica Penco, Roberta Caorsi

المصدر: Molecules
Volume 26
Issue 18
Molecules, Vol 26, Iss 5707, p 5707 (2021)

مصطلحات موضوعية: Adenosine Deaminase 2 Deficiency, Adult, Male, Adolescent, Adenosine Deaminase, Autoinflammatory disease, DADA2, Enzyme deficiency, LC-MS/MS, Agammaglobulinemia, Biomarkers, Child, Dried Blood Spot Testing, Female, Homozygote, Humans, Middle Aged, Mutation, Phenotype, Severe Combined Immunodeficiency, Tandem Mass Spectrometry, Tumor Necrosis Factor Inhibitors, Pharmaceutical Science, DNA sequencing, Article, Analytical Chemistry, QD241-441, Adenosine deaminase, autoinflammatory disease, Drug Discovery, Lc ms ms, Medicine, Physical and Theoretical Chemistry, Gene, chemistry.chemical_classification, biology, business.industry, Organic Chemistry, Molecular biology, Enzyme assay, Enzyme, chemistry, Chemistry (miscellaneous), biology.protein, Molecular Medicine, enzyme deficiency, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9f09c2ac7488e47021759f1bf21903Test
https://pubmed.ncbi.nlm.nih.gov/34577178Test

المؤلفون: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T

المساهمون: DEPT OF OTOLARYNGOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase, ubiquitin protein ligase E3, unclassified drug, HACE1 protein, human, ubiquitin protein ligase, adolescent, adult, apraxia, Article, autosomal recessive disorder, autosomal recessive inheritance, chest infection, child, clinical article, cognitive defect, consanguinity, divergent strabismus, dystonic disorder, enzyme deficiency, epilepsy, exome, female, gait disorder, gene sequence, genetic variability, immobility, intellectual impairment, lordosis, loss of function mutation

العلاقة: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344Test; https://scholarbank.nus.edu.sg/handle/10635/180093Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103344Test
https://scholarbank.nus.edu.sg/handle/10635/180093Test