منابع مشابه
Hereditary hyperbilirubinemias.
Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, CriglerNajjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias ...
متن کاملUse of D-Penicillamine in the Neonatal Hyperbilirubinemias
It appears that bilirubin IXᾰ has unique structural properties which might have been predicted on the basis of modern concepts of organic chemistry but whose biological implications certainly were not fully appreciated [1]. The initial breakdown product of haemoglobin is UCB (unconjegated or indirect bilirubin) which is insoluble in water but soluble in lipids. This process is catalyzed by an i...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کاملhereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
متن کاملHereditary chin trembling or hereditary chin myoclonus?
Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2014
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh1404257r