Detalhe da pesquisa
1.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28757203
2.
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Mol Genet Metab
; 130(2): 110-117, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32273051
3.
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
J Inherit Metab Dis
; 38(5): 791-6, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25860819
4.
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience.
Neurology
; 98(23): e2368-e2376, 2022 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35314497
5.
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Orphanet J Rare Dis
; 17(1): 202, 2022 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35578286
6.
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Orphanet J Rare Dis
; 12(1): 3, 2017 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28057010
7.
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
JIMD Rep
; 27: 39-45, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26409463