المؤلفون: Lianlian Yang, Hui Guo

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: hyperuricemia, HPRT1 gene mutation, genetic testing, congenital metabolic diseases, Lesch-Nyhan disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1080486/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/79b6aa4ae6cd416ba3647be5180137af

المؤلفون: Waldhauser, Franz^Aff1, Deutsch, Johann

المصدر: Pädiatrie & Pädologie: Österreichische Zeitschrift für Kinder- & Jugendheilkunde. 54(Suppl 1):44-49

المساهمون: Volkmar, Fred R., editor^Aff1

المصدر: Encyclopedia of Autism Spectrum Disorders. :1179-1179

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المساهمون: Volkmar, Fred R., editor^Aff1

المصدر: Encyclopedia of Autism Spectrum Disorders. :783-783

المؤلفون: Wei Du, Li Zhang, Xiaoxi Zhuang, Wanhao Chi

المصدر: G3: Genes|Genomes|Genetics

مصطلحات موضوعية: Male, Sucrose, DNA Mutational Analysis, Mutant, PNPO, medicine.disease_cause, vitamin B6, nutritional conditional lethal, Animals, Genetically Modified, 0302 clinical medicine, Genetics (clinical), Recombination, Genetic, 2. Zero hunger, Genetics, 0303 health sciences, Mutation, Chromosome Mapping, Pyridoxine, Pyridoxaminephosphate Oxidase, Complementation, Meiosis, Drosophila melanogaster, Phenotype, Biochemistry, Gene Knockdown Techniques, Pyridoxal Phosphate, auxotrophs, Bacterial Outer Membrane Proteins, medicine.drug, Genotype, Positional cloning, Molecular Sequence Data, Investigations, Biology, Chromosomes, 03 medical and health sciences, medicine, Animals, Amino Acid Sequence, Molecular Biology, Alleles, Crosses, Genetic, 030304 developmental biology, Point mutation, Vitamin B 6, pyridoxine 5′-phosphate oxidase, DNA Transposable Elements, Genes, Lethal, Pyridoxine 5'-phosphate oxidase, Sequence Alignment, 030217 neurology & neurosurgery, congenital metabolic diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74976f6e09224f2659bcac31279bd522
https://doi.org/10.1534/g3.114.011130

المؤلفون: Jaume Campistol

المصدر: Medicina (Buenos Aires), Vol 67, Iss 6, Pp 561-568 (2007)

مصطلحات موضوعية: Convulsiones, lcsh:Immunologic diseases. Allergy, Trastornos respiratorios, lcsh:R, lcsh:Medicine, Hypotonia, Inborn errors of metabolism, Convulsions, lcsh:Infectious and parasitic diseases, Neonatal, Hipotonía, Respiratory problems, lcsh:RC109-216, Congenital metabolic diseases, Error congénito del metabolismo, lcsh:RC581-607

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::fa2287eaf7e2a78662e5f5e89db6b470
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802007000700005

المؤلفون: Galbe Sánchez-Ventura, J.

المصدر: Pediatría Atención Primaria, Volume: 11, Issue: 43, Pages: 471-484, Published: SEP 2009

مصطلحات موضوعية: Prevención, Enfermedades metabólicas congénitas, Prevention, Cribado neonatal, Congenital metabolic diseases, Neonatal screening

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______624::1e1807d51439fda0b582b35c2f50fa47
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1139-76322009000400009&lng=en&tlng=en

المؤلفون: Sanjurjo, P., Baldellou, A., Aldámiz-Echevarría, K., Montejo, M., García Jiménez, M.C.

المصدر: Anales del Sistema Sanitario de Navarra, Volume: 31 Supplement 2, Pages: 55-73, Published: 2008

مصطلحات موضوعية: Hiperfenilalaninemia, Hyperphenylalaninemia, Errores Congénitos del Metabolismo (ECM), Lysosomal storage diseases, Enzymatic treatment, Enfermedades lisosomales, Tratamiento enzimático, Congenital metabolic diseases (CMD)

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______624::e1b040218701a40ecb7c8e9f1429b8aa
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1137-66272008000400005&lng=en&tlng=en

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