Page last updated: 2024-10-17

creatine and Amino Acid Transport Disorders, Inborn

creatine has been researched along with Amino Acid Transport Disorders, Inborn in 4 studies

Amino Acid Transport Disorders, Inborn: Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)

Research Excerpts

ExcerptRelevanceReference
"Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial."1.38Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. ( Aarsen, FK; de Coo, IF; de Klerk, JB; Huijmans, JG; Jakobs, C; Knol, DL; Mancini, GM; Pouwels, PJ; Salomons, GS; ten Hoopen, LW; van de Kamp, JM; van der Knaap, MS, 2012)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's3 (75.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Alcaide, P1
Rodriguez-Pombo, P1
Ruiz-Sala, P1
Ferrer, I1
Castro, P1
Ruiz Martin, Y1
Merinero, B1
Ugarte, M1
van de Kamp, JM1
Pouwels, PJ1
Aarsen, FK1
ten Hoopen, LW1
Knol, DL1
de Klerk, JB1
de Coo, IF1
Huijmans, JG1
Jakobs, C2
van der Knaap, MS1
Salomons, GS3
Mancini, GM1
Valayannopoulos, V1
Boddaert, N1
Chabli, A1
Barbier, V1
Desguerre, I1
Philippe, A1
Afenjar, A1
Mazzuca, M1
Cheillan, D1
Munnich, A1
de Keyzer, Y1
de Lonlay, P1
Kleefstra, T1
Rosenberg, EH1
Stroink, H1
van Bokhoven, H1
Hamel, BC1
de Vries, BB1

Other Studies

4 other studies available for creatine and Amino Acid Transport Disorders, Inborn

ArticleYear
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
    Developmental medicine and child neurology, 2010, Volume: 52, Issue:2

    Topics: Amino Acid Transport Disorders, Inborn; Aspartic Acid; Brain Diseases, Metabolic, Inborn; Child, Pre

2010
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1

    Topics: Amino Acid Transport Disorders, Inborn; Arginine; Brain; Child; Child, Preschool; Chromosomes, Human

2012
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1

    Topics: Administration, Oral; Adolescent; Amino Acid Transport Disorders, Inborn; Arginine; Child; Child, Pr

2012
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
    Clinical genetics, 2005, Volume: 68, Issue:4

    Topics: Aged; Amino Acid Transport Disorders, Inborn; Brain; Creatine; Depression; Disease Progression; Fema

2005