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3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

We report a patient presenting with developmental delay, Leigh‐like abnormalities on MRI and elevated 3‐hydroxyisovaleric acid levels. Upon whole‐exome sequencing, he was diagnosed with 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH def...

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Detalles Bibliográficos
Autores principales:	Karimzadeh, Parvaneh, Saberi, Mohammad, Sheidaee, Kobra, Nourbakhsh, Mitra, Keramatipour, Mohammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389474/ https://www.ncbi.nlm.nih.gov/pubmed/30847210 http://dx.doi.org/10.1002/ccr3.1998

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