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Updated: Jun 18, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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揭露非典型诊断:当针对耐火性婴儿低磁血症进行全基因组分析时,发现原发性高氧化尿

Dima Kayal1,2, Enzo Vedrine3,4, Claire Goursaud4,5

  • 1Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France. dima-kayal@hotmail.com.

Pediatric nephrology (Berlin, Germany)
|August 1, 2024
PubMed
概括

在基因检测后,一个患有复杂管道病症的早产婴儿意外地被诊断出患有1型原发性高氧沙流症 (PH1). 全基因组分析对于非典型遗传性病例至关重要.

关键词:
低磁性血症 (Hypomagnesemia) 是一种高磁性血症.主要的高氧化尿.全基因组分析分析

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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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