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Zellweger syndrome: A cause of neonatal hypotonia and seizures

Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hy...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sudan J Paediatr
Prif Awdur: Kheir, Abdelmoneim E. M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sudanese Association of Pediatricians 2011
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949836/
https://ncbi.nlm.nih.gov/pubmed/27493320
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