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Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22665
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…
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Keywords:
mutation pedigree;
analysis;
gene mutation;
deficiency ... See more keywords