Page last updated: 2024-08-17

lysine and Orphan Diseases

lysine has been researched along with Orphan Diseases in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	2 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Afenjar, A; Bienvenu, T; Billuart, P; Giurgea, I; Goldenberg, A; Hamroune, J; Lebrun, N; Mietton, L; Saintpierre, B	1
Hennessy, M; Mayne, PD; McCarthy, P; Murphy, S; Saidha, S	1

Other Studies

2 other study(ies) available for lysine and Orphan Diseases

Article	Year
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. Neuromolecular medicine, 2018, Volume: 20, Issue:3 Topics: Adolescent; Adult; Child; Female; Fibroblasts; Gene Expression Regulation; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis; Intellectual Disability; Loss of Function Mutation; Lysine; Male; Methylation; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Nitric Oxide Synthase Type III; Rare Diseases; Sequence Analysis, RNA; Signal Transduction; Syndrome; Transcription, Genetic; Young Adult	2018
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration. Journal of neurology, 2010, Volume: 257, Issue:1 Topics: Adult; Ataxia; Brain; Disease Progression; Epilepsy; Glutarates; Humans; Lysine; Male; Metabolism, Inborn Errors; Rare Diseases; Seizures	2010

Article

Year

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Neuromolecular medicine, 2018, Volume: 20, Issue:3

Topics: Adolescent; Adult; Child; Female; Fibroblasts; Gene Expression Regulation; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis; Intellectual Disability; Loss of Function Mutation; Lysine; Male; Methylation; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Nitric Oxide Synthase Type III; Rare Diseases; Sequence Analysis, RNA; Signal Transduction; Syndrome; Transcription, Genetic; Young Adult

2018

L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

Journal of neurology, 2010, Volume: 257, Issue:1

Topics: Adult; Ataxia; Brain; Disease Progression; Epilepsy; Glutarates; Humans; Lysine; Male; Metabolism, Inborn Errors; Rare Diseases; Seizures

2010