Authors | Mariko Yagi, Noriko Kusunoki, Tomoko Lee, Hiroyuki Awano, Hiroko Kodama, Yasuhiro Takeshima, Kazumoto Iijima |
Journal | No to hattatsu = Brain and development
(No To Hattatsu)
Vol. 46
Issue 3
Pg. 227-8
(May 2014)
ISSN: 0029-0831 [Print] Japan |
PMID | 24902345
(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
|