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[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].

AuthorsMariko Yagi, Noriko Kusunoki, Tomoko Lee, Hiroyuki Awano, Hiroko Kodama, Yasuhiro Takeshima, Kazumoto Iijima
JournalNo to hattatsu = Brain and development (No To Hattatsu) Vol. 46 Issue 3 Pg. 227-8 (May 2014) ISSN: 0029-0831 [Print] Japan
PMID24902345 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Cation Transport Proteins
  • Histidine
  • Copper
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases
Topics
  • Adenosine Triphosphatases (genetics)
  • Brain (pathology)
  • Cation Transport Proteins (genetics)
  • Copper (administration & dosage)
  • Copper-Transporting ATPases
  • Frameshift Mutation
  • Genotype
  • Histidine (administration & dosage)
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Menkes Kinky Hair Syndrome (diagnosis, drug therapy, genetics, pathology)
  • Mutation, Missense
  • Time Factors
  • Treatment Outcome

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