Compounds > leucine

leucine and Orphan Diseases

leucine has been researched along with Orphan Diseases in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Abi-Wardé, MT; Alili, JM; Arnoux, JB; Assoun, M; Barbier, V; Bayart, M; Belloche, C; Brassier, A; Chadefaux-Vekemans, B; de Lonlay, P; Dubois, S; Dupic, L; Habarou, F; Husson, MC; Leboeuf, V; Lesage, F; Ottolenghi, C; Pontoizeau, C; Roda, C; Servais, A; Theuil, B1
Bóveda, MD; Bueno, MA; Couce, ML; Díaz, J; Fernández-Marmiesse, A; García-Cazorla, A; Meavilla, S; Ramos, F1
Acquaviva, C; Caruba, C; Giudicelli, H; Khalfi, A; Moreigne, M; Pierron, S; Rolland, MO; Touati, G1

Other Studies

3 other study(ies) available for leucine and Orphan Diseases

ArticleYear
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:6

    Topics: Adolescent; Adult; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Leucine; Male; Maple Syrup Urine Disease; Middle Aged; Rare Diseases; Retrospective Studies; Young Adult

2017
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015, Volume: 19, Issue:6

    Topics: Brain Diseases; Chromatography, Ion Exchange; Delayed Diagnosis; Developmental Disabilities; Early Diagnosis; Female; Genetic Association Studies; Humans; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Polymerase Chain Reaction; Prognosis; Quality of Life; Rare Diseases; Spain; Tandem Mass Spectrometry

2015
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010, Volume: 17, Issue:1

    Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromosome Aberrations; Combined Modality Therapy; Diet, Protein-Restricted; DNA Mutational Analysis; Exons; Genes, Recessive; Humans; Hypoglycemia; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Polymerase Chain Reaction; Rare Diseases; Sequence Analysis, DNA

2010