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Items: 13

1.

Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

Nouioua S, Cheillan D, Zaouidi S, Salomons GS, Amedjout N, Kessaci F, Boulahdour N, Hamadouche T, Tazir M.

Neuromuscul Disord. 2013 Aug;23(8):670-4. doi: 10.1016/j.nmd.2013.04.011. Epub 2013 Jun 14.

PMID:
23770102
2.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17.

PMID:
23660394
3.

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS.

Mol Genet Metab. 2012 May;106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27.

PMID:
22386973
4.

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

Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):228-32. doi: 10.1016/j.ymgme.2010.06.021. Epub 2010 Jul 7.

PMID:
20682460
5.

Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.

Verma A.

Neurology. 2010 Jul 13;75(2):186-8. doi: 10.1212/WNL.0b013e3181e7cabd. No abstract available.

PMID:
20625172
6.

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G.

J Pediatr. 2006 Jun;148(6):828-30.

PMID:
16769397
7.

Creatine deficiency syndromes.

Schulze A.

Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review.

PMID:
12701824
8.

Gatm, a creatine synthesis enzyme, is imprinted in mouse placenta.

Sandell LL, Guan XJ, Ingram R, Tilghman SM.

Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4622-7. Epub 2003 Apr 1.

9.

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stöckler-Ipsiroglu S, Cioni G.

Mol Genet Metab. 2002 Dec;77(4):326-31.

PMID:
12468279
10.

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

Item CB, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandrì MG, Bianchi MC, Tosetti M, Fornai F, Cioni G.

Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10.

11.

Reversible brain creatine deficiency in two sisters with normal blood creatine level.

Bianchi MC, Tosetti M, Fornai F, Alessandri' MG, Cipriani P, De Vito G, Canapicchi R.

Ann Neurol. 2000 Apr;47(4):511-3.

PMID:
10762163
12.
13.

The amino acid sequences of human and pig L-arginine:glycine amidinotransferase.

Humm A, Huber R, Mann K.

FEBS Lett. 1994 Feb 14;339(1-2):101-7.

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