منابع مشابه
'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitryp...
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Background: Stroke mimic is a major diagnostic challenge and may be difficult to distinguish from real strokes. The aim of this study was to evaluate the relative frequency of stroke mimics in patients with clinical signs of stroke. Methods: In this cross sectional-study, the medical records of 1985 patients with stroke admitted to Poursina Hospital were enrolled using the census technique. ...
متن کاملHemoglobin Duarte : ( a 2 fl
A patient with a normal blood hemoglobin was found to be heterozygous for a new level, but with evidence of brisk hemolfl-chain mutation and fl-thalassemia. All ysis, was found to have an unstable of the hemoglobin in his red cells was of hemoglobin with a left-shifted oxygen the abnormal type, designated hemodissociation curve. Two sisters of the paglobin Duarte, and was shown to contain tient...
متن کاملStructural and Functional Characterization of a New Double Variant Haemoglobin (HbG-Philadelphia/Duarte α268Asn→Lysβ262Ala→Pro)
WE REPORT THE FIRST CASE OF COSEGREGATION OF TWO HAEMOGLOBINS (HBS): HbG-Philadelphia [α68(E17)Asn → Lys] and HbDuarte [β62(E6)Ala → Pro]. The proband is a young patient heterozygous also for β°-thalassaemia. We detected exclusively two haemoglobin variants: HbDuarte and HbG-Philadelphia/Duarte. Functional study of the new double variant HbG-Philadelphia/Duarte exhibited an increase in oxygen a...
متن کاملCoexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia
Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of ga...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1972
ISSN: 1468-6244
DOI: 10.1136/jmg.9.1.129