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Items: 1 to 20 of 134

1.

Cardiac involvement in nonketotic hyperglycinemia.

Al-Shareef I, Arabi M, Dabbagh O.

J Child Neurol. 2011 Aug;26(8):970-3. doi: 10.1177/0883073811399150. Epub 2011 Apr 28.

PMID:
21527396
2.

Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio.

Jackson AH, Applegarth DA, Toone JR, Kure S, Levy HL.

J Child Neurol. 1999 Jul;14(7):464-7.

PMID:
10573469
3.

Nonketotic hyperglycinemia: a cause of encephalopathy in children.

Veríssimo C, Garcia P, Simões M, Robalo C, Henriques R, Diogo L, Grazina M.

J Child Neurol. 2013 Feb;28(2):251-4. doi: 10.1177/0883073812441063. Epub 2012 Apr 24.

PMID:
22532538
4.

Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course.

Chiong MA, Procopis P, Carpenter K, Wilcken B.

Pediatr Neurol. 2007 Oct;37(4):283-6.

PMID:
17903674
5.

Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizures.

Lin FY, Gascon GG, Hyland K, Chugani H, Chugani D.

J Child Neurol. 2006 Oct;21(10):900-3.

PMID:
17005111
6.

Nonketotic hyperglycinemia and acquired hydrocephalus.

Yis U, Kurul SH, Dirik E.

Pediatr Neurol. 2009 Feb;40(2):138-40. doi: 10.1016/j.pediatrneurol.2008.10.007.

PMID:
19135633
7.

Early myoclonic encephalopathy and nonketotic hyperglycinemia.

Rossi S, Daniele I, Bastrenta P, Mastrangelo M, Lista G.

Pediatr Neurol. 2009 Nov;41(5):371-4. doi: 10.1016/j.pediatrneurol.2009.05.005.

PMID:
19818941
8.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL.

Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.

9.

Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia.

Tekgul H, Serdaroğlu G, Karapinar B, Polat M, Yurtsever S, Tosun A, Coker M, Gokben S.

J Child Neurol. 2006 Jan;21(1):82-4.

PMID:
16551461
10.

Two novel missense mutations observed in nonketotic hyperglycinemia.

Yoon IA, Lee NM, Yoo BH, Lee BS, Yoo HW.

Pediatr Neurol. 2012 Jun;46(6):401-3. doi: 10.1016/j.pediatrneurol.2012.03.002.

PMID:
22633639
11.

Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia.

Manley BJ, Sokol J, Cheong JL.

Pediatr Neurol. 2010 Mar;42(3):219-22. doi: 10.1016/j.pediatrneurol.2009.10.013.

PMID:
20159434
12.

Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia.

Samady JA, Schwartz RA, Shih LY, Piela Z, Lambert WC, Janniger CK.

J Dermatol. 2000 Sep;27(9):604-8.

PMID:
11052237
13.

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

Meyer S, Acquaviva C, Shamdeen MG, Haas D, Vianey-Saban C.

Pediatr Neurol. 2010 Nov;43(5):363-7. doi: 10.1016/j.pediatrneurol.2010.05.025.

PMID:
20933183
14.

Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy.

Aburahma S, Khassawneh M, Griebel M, Sharp G, Gibson J.

J Child Neurol. 2011 Jun;26(6):703-6. doi: 10.1177/0883073810389041. Epub 2011 Feb 18.

PMID:
21335543
15.

Natural history of nonketotic hyperglycinemia in 65 patients.

Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A.

Neurology. 2004 Nov 23;63(10):1847-53.

PMID:
15557500
16.

Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia.

Viola A, Chabrol B, Nicoli F, Confort-Gouny S, Viout P, Cozzone PJ.

Pediatr Res. 2002 Aug;52(2):292-300.

PMID:
12149509
17.

Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain.

Perry TL, Urquhart N, MacLean J, Evans ME, Hansen S, Davidson GF, Applegarth DA, MacLeod PJ, Lock JE.

N Engl J Med. 1975 Jun 12;292(24):1269-73.

PMID:
1128590
18.

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL.

Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Erratum in: Ann Neurol. 2016 Mar;79(3):505.

PMID:
26179960
19.

Two novel missense mutations in nonketotic hyperglycinemia.

Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO.

J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16.

PMID:
24838951
20.

[Proton MR spectroscopy of nonketotic hyperglycinemia].

Suzuki Y, Ueda H, Toribe Y.

No To Hattatsu. 2001 Sep;33(5):422-5. Japanese.

PMID:
11558145
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