1 “... of the muscles.The majority of SMA cases (95%) are due to an autosomal recessive disorder caused by homozygous...”

2 “... of patients with nephropathic cystinosis. Cystinosis is a recessive autosomal genetic ultra-rare disease...”

3 “... of patients with nephropathic cystinosis. Cystinosis is a recessive autosomal genetic ultra-rare disease...”

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5 “...), is an autosomal recessive inborn error of metabolism caused by mutations in the gene encoding PAH, the enzyme...”

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7 “...), is an autosomal recessive inborn error of metabolism caused by mutations in the gene encoding PAH, the enzyme...”

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