MOLECULAR GENETIC CHARACTERISTICS CHILDREN WITH GROWTHHORMONE DEFICIENCY
نویسندگان
چکیده
منابع مشابه
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics.
Hepatic lipase (HL) is an important enzyme in the metabolism of triglyceride-rich lipoproteins and high density lipoproteins. The clinical syndrome of HL deficiency is rare and difficult to identify. We studied carriers of mutant HL to ascertain whether there are distinctive clinical and/or biochemical characteristics of the heterozygous state. In an Ontario kindred, compound heterozygosity for...
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OBJECTIVE To describe a group of children exhibiting electrophysiologic responses characteristic of auditory neuropathy (AN) who were subsequently identified as having absent or small cochlear nerves (i.e., cochlear nerve deficiency). DESIGN A retrospective review of the clinical records, audiological testing results, and magnetic resonance imaging (MRI) studies. Fifty-one of 65 children with...
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BACKGROUND Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine, and epinephrine. Recently, mutations were identified in cases of autosomal recessive dopa-responsive dystonia and infantile parkinsonism. We describe a patient with severe symptoms and a new missense mutation in TH. METHODS Relevant metabolites in urine and...
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ژورنال
عنوان ژورنال: HERALD of North-Western State Medical University named after I.I. Mechnikov
سال: 2017
ISSN: 2618-9704,2618-7116
DOI: 10.17816/mechnikov20179412-16