Menkes disease mimicking non-accidental injury in a Filipino child
Dion-Berboso April Grace; Madrid Bernadette J; Melendres Cerissa T; Chiong Mary Anne D.
Acta Medica Philippina
; : 73-75, 2011.
Artículo en Inglés | WPRIM | ID: wpr-631854
Documentos relacionados
[Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1].
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study.
An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.
Current and potential new treatment strategies for creatine deficiency syndromes.
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.
Dodecyl creatine ester therapy: from promise to reality.
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
Challenges for Worldwide Harmonization of Newborn Screening Programs.