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: Gil Silva, Maria Nicole Pestana, Francisca Silva, José Durães

المصدر: BMJ Case Rep

مصطلحات موضوعية: Adult, Male, Enzyme deficiency, Mutation, Missense, Case Report, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, Genetics, business.industry, Specific mutation, General Medicine, Middle Aged, medicine.disease, Fabry disease, Phenotype, alpha-Galactosidase, Mutation (genetic algorithm), Mutation, Fabry Disease, Female, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a0d2f955c4cc92a087ff0fd04a1d2eTest
https://pubmed.ncbi.nlm.nih.gov/33649041Test

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: Balasubramaniyan Muthuvel, Rimesh Pal, Devi Dayal, Akanksha Gautam, Inusha Panigrahi

المصدر: Pediatric endocrinology, diabetes, and metabolism. 26(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Enzyme deficiency, endocrine system diseases, Adrenal Hyperplasia, Congenital, business.industry, nutritional and metabolic diseases, Cyp21a2 gene, General Medicine, Twins, Monozygotic, urologic and male genital diseases, medicine.disease, female genital diseases and pregnancy complications, Simple-virilising congenital adrenal hyperplasia, Child, Preschool, Mutation, medicine, Humans, Congenital adrenal hyperplasia, Female, Steroid 21-Hydroxylase, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c8ec9e3c56028ed9caf3b4dd32016dTest
https://pubmed.ncbi.nlm.nih.gov/32272826Test

المؤلفون: Rana Yadak, Marjolein Breur, Marianna Bugiani

المساهمون: Neurology

المصدر: Orphanet Journal of Rare Diseases, 14:33. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Yadak, R, Breur, M & Bugiani, M 2019, ' Gastrointestinal Dysmotility in MNGIE: From thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 33 . https://doi.org/10.1186/s13023-019-1016-6Test

مصطلحات موضوعية: 0301 basic medicine, Male, Enzyme deficiency, Gastrointestinal Diseases, lcsh:Medicine, Review, 030105 genetics & heredity, Bioinformatics, Chronic intestinal pseudo-obstruction, Pathogenesis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Muscular Dystrophy, Oculopharyngeal, Medicine, Humans, Pharmacology (medical), Thymidine phosphorylase, Pathological, Genetics (clinical), Gastrointestinal dysmotility, CIPO, Thymidine Phosphorylase, Ophthalmoplegia, business.industry, ICC, Intestinal Pseudo-Obstruction, lcsh:R, Intestinal organoids, General Medicine, Human genetics, Interstitial cell of Cajal, Interstitial cells of Cajal, Mutation, HSCT, MNGIE, symbols, Female, Personalized medicine, Mitochondrial neurogastrointestinal encephalomyopathy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d96cb7fe48416d417453620a786dfeTest
https://pure.eur.nl/en/publications/da0488b4-964d-410e-9d49-abee55f6e662Test

المؤلفون: Sevim Karakas Celik, Tuba Edgünlü, Erdal Eren, Emre Asut

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Asut, Emre, HJH-3690-2023, Zonguldak Bülent Ecevit Üniversitesi, MÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Edgünlü, Tuba

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, Luteinizing hormone, Gonadectomy, Turkey, Endocrinology, Diabetes and Metabolism, Transcription factor sox, Reductase, Gene, Pediatrics, law.invention, Precocious puberty, 0302 clinical medicine, Endocrinology, Ala65Pro gene, Genital system, Ambiguous genitalia, Membrane proteins, Primary amenorrhea, Medicine, Clitoromegaly, Child, Abnormal karyotype, Endocrinology & metabolism, SRD5A2 gene, Disorder of sex development, Gonad, Polymerase chain reaction, Nuclear magnetic resonance imaging, Testis determining factor, 030220 oncology & carcinogenesis, Dihydrotestosterone, Deficiency, 5-Alpha-Reductase, Steroid 5alpha reductase, Human, Disorders of sex development, Dutasteride, 5-alpha Reductase Inhibitors, Oxidoreductases, Clinical article, Article, 03 medical and health sciences, Genetics, Humans, Polymorphism, Chemiluminescence immunoassay, Infant, Body weight, Karyotype 46,XY, medicine.disease, Steroid 5alpha reductase 2, Body height, Membrane protein, Inguinal canal, Mutation, Polymorphism, single nucleotide, School child, Defect, Androstanolone, 5-alpha-reductase, Type-2, SRD5A2 protein, human, Exon, law, DNA mutational analysis, Testosterone, 46,XY Disorders of Sex Development, 46,XY disorders of sex development, Karyotype 47,XXY, Genetic analysis, Breast development, Original Article, Female, Chromosome aberration, medicine.drug, Risk, Adult, XY disorders of sex development, Child, preschool, Endokrinoloji ve Metabolizma, 030209 endocrinology & metabolism, V89L gene, Hormone substitution, Gene mutation, Enzyme deficiency, Gene amplification, Genetic polymorphism, business.industry, 3-oxo-5-alpha-steroid 4-dehydrogenase, Follitropin, Gender dysphoria, Single nucleotide polymorphism, Young adult, Pediatri, Preschool child, SRD5A2, Pediatrics, Perinatology and Child Health, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f37c4243ec72bf3104dbc285e8d564bTest
https://doi.org/10.4274/jcrpe.2495Test

المؤلفون: Carrie J. Finno, Stephanie J. Valberg, Sharon J. Spier

المصدر: The Veterinary Journal. 179:336-347

مصطلحات موضوعية: Male, Severe combined immunodeficiency, Mutation, General Veterinary, Chromosome Mapping, Disease, Biology, Prognosis, medicine.disease, medicine.disease_cause, Glycogen Branching Enzyme Deficiency, Horse genome, Hereditary equine regional dermal asthenia, Immunology, Prevalence, medicine, Animals, Female, Genetic Predisposition to Disease, Horse Diseases, Animal Science and Zoology, Horses, Hyperkalemic periodic paralysis, Junctional epidermolysis bullosa (veterinary medicine)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1cdb9790a012dd64697a096edaac51Test
https://doi.org/10.1016/j.tvjl.2008.03.016Test

المؤلفون: Stefania Assereto, Margarida Maria Videira Henriques, Jildau Dilling, Isabel M. Carreira, Olinda Rebelo, Paula Garcia, Carlo Minetti, Eva Morava, Denise Cassandrini, Willem P. de Boode, Henk J. ter Laak, Luísa Diogo, Otto P. van Diggelen, Claudio Bruno

المساهمون: Clinical Genetics

المصدر: Biochemical & Biophysical Research Communications, 361(2), 445-450. Academic Press
Biochemical and Biophysical Research Communications, 361, 2, pp. 445-50
Biochemical and Biophysical Research Communications, 361, 445-50

مصطلحات موضوعية: DNA, Complementary, Biopsy, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Biophysics, medicine.disease_cause, Biochemistry, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Glycogen Storage Disease Type IV, Fatal Outcome, 1,4-alpha-Glucan Branching Enzyme, medicine, Perception and Action [DCN 1], Humans, Amino Acid Sequence, Glycogen storage disease type IV, Glycogen synthase, Muscle, Skeletal, Molecular Biology, GSK3B, Gene, Mutation, biology, Base Sequence, Intron, Infant, Newborn, Cell Biology, Exons, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Introns, Glycogen Branching Enzyme Deficiency, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], biology.protein, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9538fec0a8274be02a2386f4c97d411dTest
https://hdl.handle.net/1765/35198Test

المؤلفون: Ruti Parvari, Shimon Moses

المصدر: Current Molecular Medicine. 2:177-188

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA, Complementary, Molecular Sequence Data, Biology, Biochemistry, Glycogen Storage Disease Type IV, chemistry.chemical_compound, Exon, Polysaccharides, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, Prenatal Diagnosis, Internal medicine, Glycogen branching enzyme, medicine, Animals, Humans, Amino Acid Sequence, Age of Onset, Glycogen storage disease type IV, Molecular Biology, Gene, Polymorphism, Genetic, Splice site mutation, Base Sequence, Sequence Homology, Amino Acid, Glycogen, Exons, General Medicine, Adult polyglucosan body disease, medicine.disease, Glycogen Branching Enzyme Deficiency, Disease Models, Animal, Endocrinology, chemistry, Mutation, biology.protein, Molecular Medicine, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cb8bd7cb858a76a6511e86a8c335e4Test
https://doi.org/10.2174/1566524024605815Test

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