Complex medical history of a patient with a compound heterozygous mutation inC1QC
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چکیده
منابع مشابه
A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
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As you know, there are many more unanswered questions than there are medicine-based facts in the field of mitochondrial medicine, particularly regarding the pathogenesis of disease and phenotypic expression in our two patients [1]. The most surprising aspect of their illness is the fact that neither manifested mitochondrial DNA depletion in skeletal muscle, yet both had significant myopathy. It...
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ژورنال
عنوان ژورنال: Lupus
سال: 2019
ISSN: 0961-2033,1477-0962
DOI: 10.1177/0961203319865029