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1.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 147(6): 1967-1974, 2024 Jun 03.
Article
in English
| MEDLINE | ID: mdl-38478578
2.
ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.
J Biol Chem
; 297(4): 101083, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34419447
3.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30773687
4.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28255778
5.
Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
Int J Pediatr Otorhinolaryngol
; 104: 191-194, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-29287866
6.
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Mol Genet Metab Rep
; 7: 8-10, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27331002
7.
Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.
J Child Neurol
; 29(8): NP18-23, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-23864591
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