Results 91 to 100 of about 409 (115)

Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency. [PDF]

Brain Sci
Balestrino M, Adriano E, Alì PA, Pardini M.   +3 more
europepmc   +1 more source

Arginine Transporters in Human Cancers: Emerging Mechanisms and Clinical Implications. [PDF]

Biomolecules
Cai X, Shang L, Li Y, Cao Y, Shi F.
europepmc   +1 more source

The Role of the L-Arginine-Nitric Oxide Molecular Pathway in Autosomal Dominant Polycystic Kidney Disease. [PDF]

J Pers Med
Ene CD, Penescu M, Nicolae I, Capusa C.
europepmc   +1 more source

[¹⁸F]FDG-PET and [¹⁸F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation. [PDF]

Sci Rep
Day I, Tamboline M, Lueptow L, Zhuravka I, Diep T, Tkachyova I, Xu S, Schulze A, Lipshutz GS.   +8 more
europepmc   +1 more source

Maintaining energy provision in the heart: the creatine kinase system in ischaemia-reperfusion injury and chronic heart failure. [PDF]

Clin Sci (Lond)
Lygate CA.
europepmc   +1 more source

Somatic CRISPR tumorigenesis and multiomic analysis reveal a pentose phosphate pathway disruption vulnerability in MPNSTs. [PDF]

Sci Adv
McGivney GR, Brockman QR, Borcherding N, Scherer A, Rauckhorst AJ, Gutierrez WR, Solst SR, Heer CD, Warrier A, Floyd W, Kirsch DG, Knepper-Adrian VL, Laverty EA, Roughton GA, Spitz DR, Taylor EB, Dodd RD.   +16 more
europepmc   +1 more source

Enhancing Leukemia Treatment: The Role of Combined Therapies Based on Amino Acid Starvation. [PDF]

Cancers (Basel)
Chen C, Zhang J.
europepmc   +1 more source

l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation

Molecular Genetics and Metabolism, 2010
Creatine and creatine phosphate provide storage and transmission of phosphate-bound energy in muscle and brain. Of the three inborn errors of creatine metabolism causing brain creatine depletion, l-arginine:glycine amidinotransferase (AGAT) deficiency has been described in only two families.
Simon Edvardson, Stanley H Korman, Amir Livne   +2 more
exaly   +4 more sources

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide [PDF]

Molecular Genetics and Metabolism, 2015
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical ...
Sylvia Stöckler-Ipsiroglu, Roberta Battini, Suzanne Debrosse   +2 more
exaly   +3 more sources

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease [PDF]

Journal of Pediatrics, 2006
Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders.
Roberta Battini, Maria Grazia Alessandri, Vincenzo Leuzzi   +2 more
exaly   +3 more sources