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hyperargininemia/bjúgur

Krækjan er vistuð á klemmuspjaldið
GreinarKlínískar rannsóknirEinkaleyfi
4 niðurstöður

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

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We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle

Arginase Deficiency

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Clinical characteristics: Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme.

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Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by

[Urea cycle disorders in adult patients].

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BACKGROUND Urea cycle disorders (UCD) usually present after 24 h to 48 h of life with failure to thrive, lethargy and coma leading to death, but milder forms may occur from infancy to adulthood. BACKGROUND Survival of children with UCD has significantly improved and the need for transitional care to
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Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum

  • Virkar á 55 tungumálum
  • Jurtalækningar studdir af vísindum
  • Jurtaviðurkenning eftir ímynd
  • Gagnvirkt GPS kort - merktu jurtir á staðsetningu (kemur fljótlega)
  • Lestu vísindarit sem tengjast leit þinni
  • Leitaðu að lækningajurtum eftir áhrifum þeirra
  • Skipuleggðu áhugamál þitt og vertu vakandi með fréttarannsóknum, klínískum rannsóknum og einkaleyfum

Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
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