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1.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis
; 44(5): 1235-1247, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34014569
2.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30206421
3.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-30279470
4.
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Biochim Biophys Acta
; 1802(5): 478-84, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20060901
5.
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
JIMD Rep
; 51(1): 25-29, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32071836
6.
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Neurol Genet
; 5(6): e363, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31872048
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