ArticleClinical case reports2018
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.Scientific reports · 2024Article
- Article
- Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.Scientific reports · 2021Article
- Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.Molecular genetics & genomic medicine · 2020Article
- Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.Clinical case reports · 2018Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Twelve days after birth, the child was admitted to hospital because of "poor response, lethargy, and poor appetite for 6 days" and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease.
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