Also searching for:Chromosome 6via MeSH
Related terms:Chromosomes, Human, Pair 6
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Pediatric Neurology · Chapter 100
Case 77 Tell Me How You Eat and I Will Tell You How You Walk
6–10 mg/dl). Genetic testing showed two compound heterozygous pathogenic variants in the TTPA gene, leading to a loss of α‐TTP activity. The variants identified were c.661C>T (p.Arg221Trp) and c.744delA (p.Glu249Asnfster15). The child was put on high doses (1000 mg/day) of oral vitamin E. Clinical Differential Diagnoses
Pediatric Neurology · Chapter 100
Case 77 Tell Me How You Eat and I Will Tell You How You Walk
6–10 mg/dl). Genetic testing showed two compound heterozygous pathogenic variants in the TTPA gene, leading to a loss of α‐TTP activity. The variants identified were c.661C>T (p.Arg221Trp) and c.744delA (p.Glu249Asnfster15). The child was put on high doses (1000 mg/day) of oral vitamin E. Clinical Differential Diagnoses
Pediatric Neurology · Chapter 100
Case 77 Tell Me How You Eat and I Will Tell You How You Walk
6–10 mg/dl). Genetic testing showed two compound heterozygous pathogenic variants in the TTPA gene, leading to a loss of α‐TTP activity. The variants identified were c.661C>T (p.Arg221Trp) and c.744delA (p.Glu249Asnfster15). The child was put on high doses (1000 mg/day) of oral vitamin E. Clinical Differential Diagnoses
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