دورية أكاديمية
Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]
| العنوان: | Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4] |
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| 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 |
| بيانات النشر: | Wiley-Blackwell |
| سنة النشر: | 2006 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| 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 |
| الوصف: | [No abstract available] |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| 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 |
| DOI: | 10.1111/j.1399-0004.2006.00579.x |
| الإتاحة: | https://doi.org/10.1111/j.1399-0004.2006.00579.xTest http://hdl.handle.net/2108/37937Test |
| رقم الانضمام: | edsbas.E91B140C |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1399-0004.2006.00579.x |
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