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1.
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
Ital J Pediatr
; 48(1): 27, 2022 Feb 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35164799
2.
A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.
Iran J Child Neurol
; 16(4): 65-74, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36478999
3.
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Ir J Med Sci
; 191(4): 1877-1890, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34374940
4.
Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.
Clin Case Rep
; 9(9): e04748, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34484776
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