Page last updated: 2024-10-17

creatine and Orphan Diseases

creatine has been researched along with Orphan Diseases in 3 studies

Orphan Diseases: Rare diseases that have not been well studied.

Research Excerpts

ExcerptRelevanceReference
"Rare diseases are often difficult to diagnose, and many do not have approved therapies."1.91Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus. ( Alodadi, MS; Collins, JR; Hannah-Shmouni, F; Haugabook, SJ; Lyons, EL; Mudunuri, US; Ottinger, EA; Porter, FD; Tawa, GJ; Watson, D, 2023)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Lyons, EL1
Watson, D1
Alodadi, MS1
Haugabook, SJ1
Tawa, GJ1
Hannah-Shmouni, F1
Porter, FD1
Collins, JR1
Ottinger, EA1
Mudunuri, US1
Nagae-Poetscher, LM1
Bibat, G1
Philippart, M1
Rosemberg, S1
Fatemi, A1
Lacerda, MT1
Costa, MO1
Kok, F1
Costa Leite, C1
Horská, A1
Barker, PB1
Naidu, S1
FRANZEN, F1
GODEN, H1

Other Studies

3 other studies available for creatine and Orphan Diseases

ArticleYear
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
    BMC genomics, 2023, Aug-16, Volume: 24, Issue:1

    Topics: Algorithms; Creatine; Humans; Introns; Nucleotides; Rare Diseases

2023
Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
    Neurology, 2004, Apr-13, Volume: 62, Issue:7

    Topics: Adolescent; Aspartic Acid; Brain; Brain Diseases; Calcinosis; Central Nervous System Cysts; Child; C

2004
[Technicophysical aspects of methods heretofore used in medicine for the determination of creatine bodies, with observations on the precipitation and separation of creatine and creatinine; presentation of specifications for a photoelectric wedge colorimet
    Zeitschrift fur die gesamte experimentelle Medizin, 1950, Volume: 116, Issue:1

    Topics: Colorimetry; Creatine; Creatinine; Humans; Medicine; Rare Diseases

1950