يعرض 1 - 1 نتائج من 1 نتيجة بحث عن '"Ngan-Shan Kwong"', وقت الاستعلام: 0.27s تنقيح النتائج
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    Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening

    المؤلفون: Ngan-Shan Kwong, Wai-Kwan Siu, Sylvia Luen-Yee Siu, Tak-Shing Siu, Albert Yan-Wo Chan, Chloe Miu Mak, Ching-Wan Lam, Chun-Yin Pang

    المصدر: Diagnostic molecular pathology : the American journal of surgical pathology, part B. 21(3)

    مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Heterozygote, Mitochondrial Diseases, RNA Splicing, Compound heterozygosity, Asymptomatic, Lipid Metabolism, Inborn Errors, Pathology and Forensic Medicine, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, Fatal Outcome, Neonatal Screening, Muscular Diseases, Tandem Mass Spectrometry, Medicine, Congenital Bone Marrow Failure Syndromes, Humans, Favorable outcome, Preventable death, Molecular Biology, Newborn screening, business.industry, Siblings, Acyl-CoA Dehydrogenase, Long-Chain, Fatty acid oxidation defects, Infant, Newborn, Infant, Cell Biology, Sequence Analysis, DNA, Mutation, Hong Kong, medicine.symptom, business, Novel mutation

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6bd78df9a11e77f7723f221358fcf2
    https://pubmed.ncbi.nlm.nih.gov/22847164

    View record in OpenAIRE

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