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3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Saneifard, Hedyeh, Mosallanejad, Asieh, Fallahzadeh, Aida, Sheikhy, Ali
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8299097/
https://ncbi.nlm.nih.gov/pubmed/34322265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4528
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