Found: 6
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Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
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- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 197, doi. 10.1186/s13023-014-0197-2
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- Publication type:
- Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
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- Publication type:
- Article
The progressive intellectual and neurological deterioration study: a game changer.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 3, p. 243, doi. 10.1111/dmcn.14780
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- Publication type:
- Article