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Tetrahydrobiopterin (BH4) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia,… Click to show full abstract
Tetrahydrobiopterin (BH4) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of this study are to analyze the genotype‐phenotype and the pedigree of the first case of BH4 deficiency in the Uygur of China.
Keywords:
mutation pedigree;
analysis;
gene mutation;
deficiency;
tetrahydrobiopterin;
deficiency uygur
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2019
Link to full text (if available)
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Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2019
Link to full text (if available)
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recommendations!