Ornitintranscarbamylasemangel or "urea cycle disorders" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/ornitintranscarbamylasemangel
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    Ornitintranscarbamylasemangel (ornithin transcarbamylase deficiency) er en arvelig, medfødt stoffskiftesykdom som oftest rammer nyfødte gutter. Sykdommen skyldes mangelfull ...
  2. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=5&S=430
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    ... M. Current straetegis for the management of neonatal urea cycle disorder. J Pediatr 2001; 138 (1 suppl): S30-S39.2. Batshaw ML et al. Alternative pathway therapy for urea cycle disorders: Twenty years later. J Pediatr 2001; 138 (1 ...
  3. Frambu
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    www.frambu.no/diagnoser
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    ... MPS VII) Pelizaeus-Merzbachers sykdom Proksymal myotonisk myopati Ornitintranscarbamylasemangel Pataus syndrom NBIA AT Lebers hereditære optikusnevropati Alfamannosidose ...
  4. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=3&S=1686
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    ... 08.01.9. Mathias RS et al. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidn Dis ... 08.01.9. Mathias RS et al. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidn Dis ...
  5. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/.../medfødte-stoffskift
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    ... Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. Woldseth ...
  6. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/.../10-glukose/10.7-hyperammonemi
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    ... M. Current strategies for the Management of Neonatal Urea Cycle Disorders. J Pediatr 2001; 138: S30-39. Handeland M. ...
  7. Frambu
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    www.frambu.no
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    ... MPS VII) Pelizaeus-Merzbachers sykdom Proksymal myotonisk myopati Ornitintranscarbamylasemangel Pataus syndrom NBIA AT Lebers hereditære optikusnevropati Alfamannosidose ...