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Comparative study between the phenylalanine level in umbilical cord blood and in heel prick blood of the newborn / Omayma Abdelkader Hashem Morsy ; Supervised Ahmed Lotfy Aboulnasr , Amr Sobhy Goda , Waleed Saber Abdelgaber

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Omayma Abdelkader Hashem Morsy , 2012Description: 94 P. : charts ; 25cmOther title:
  • دراسة مقارنة بين مستوي الفينيل ألانين في دم الحبل السري و في دم وخزة الكعب لحديثي الولادة [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Gynecology and Obstetrics Summary: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (PHA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly seizures, global developmental delay and severe intellectual impairment
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.15.M.Sc.2012.Om.C (Browse shelf(Opens below)) Not for loan 01010110058385000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.15.M.Sc.2012.Om.C (Browse shelf(Opens below)) 58385.CD Not for loan 01020110058385000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Gynecology and Obstetrics

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (PHA) are caused by mutations in the PAH gene on chromosome 12q23.2. Untreated PKU is associated with an abnormal phenotype which includes growth failure, poor skin pigmentation, microcephaly seizures, global developmental delay and severe intellectual impairment

Issued also as CD

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