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Items: 1 to 20 of 114

1.

Non-ketotic hyperglycinaemia: case report and review of medical literature.

Madu AE, Oliver L.

J Matern Fetal Neonatal Med. 2013 Mar;26(5):537-9. doi: 10.3109/14767058.2012.745496. Epub 2012 Nov 29. Review.

PMID:
23134083
2.

Non-ketotic hyperglycinemia as the cause of infant seizures--the case study.

Kaźmierczuk-Skubis ME, Zatorska-Karpuś M, Pac-Kozuchowska E, Bojko-Jaworska J, Furmaga-Jabłońska W.

Ann Univ Mariae Curie Sklodowska Med. 2004;59(1):237-41.

PMID:
16145987
3.

Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.

Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR, Kay JD.

Dev Med Child Neurol. 2008 Feb;50(2):157-9. doi: 10.1111/j.1469-8749.2007.02003.x.

4.

Neonatal nonketotic hyperglycinemia: a case study and review of management for the advanced practice nurse.

Mulligan JL.

Neonatal Netw. 2013 Mar-Apr;32(2):95-103. doi: 10.1891/0730-0832.32.2.95. Review.

PMID:
23477976
5.

Delivery of a normal baby after preimplantation genetic diagnosis for non-ketotic hyperglycinaemia.

Hellani A, Sammour A, Johansson L, El-Sheikh A.

Reprod Biomed Online. 2008 Jun;16(6):893-7.

PMID:
18549703
6.

Four cases of neonatal non-ketotic hyperglycinaemia.

Atay E, Bozaykut A, Sezer G.

Ann Trop Paediatr. 2004 Dec;24(4):345-7.

PMID:
15720892
7.
8.

Neonatal nonketotic hyperglycinemia.

Bhamkar RP, Colaco P.

Indian J Pediatr. 2007 Dec;74(12):1124-6.

PMID:
18174652
9.

[Clinical progress of neonatal non-ketotic hyperglycinemia under treatment].

García-Pérez A, Martínez-Granero MA, Martín-Ancel AM, Bonet-Serra B, García-Muñoz MJ, García-Segura JM, Viaño J, Lama-More RA.

Rev Neurol. 2004 Oct 16-31;39(8):727-30. Spanish.

10.

Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).

Korman SH, Gutman A.

Dev Med Child Neurol. 2002 Oct;44(10):712-20. No abstract available.

11.

Nonketotic hyperglycinemia in two siblings with neonatal seizures.

Wattanasirichaigoon D, Visudtibhan A, Phudhichareonrat S, Chiemchanya S, Leelahagul P, Suwan K, Supapannachart S.

Southeast Asian J Trop Med Public Health. 2003 Mar;34(1):202-7.

PMID:
12971536
12.

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
13.

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
14.

A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.

Beijer P, Lichtenbelt KD, Hofstede FC, Nikkels PG, Lemmers P, de Vries LS.

Neuropediatrics. 2012 Jun;43(3):164-7. doi: 10.1055/s-0032-1313914. Epub 2012 May 19.

PMID:
22610665
15.

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
16.

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
17.

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S.

J Med Genet. 2007 Mar;44(3):e69.

18.

[Amplitude-integrated electroencephalography in non-ketotic hyperglycinaemia].

Knaepper-Martin S, Boix H.

Rev Neurol. 2014 Jan 1;58(1):47. Review. Spanish.

19.

Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia.

Terek D, Koroglu OA, Gunes S, Yalaz M, Akisu M, Uçar SK, Gokben S, Coker M, Kultursay N.

Pediatr Int. 2012 Oct;54(5):717-20. doi: 10.1111/j.1442-200X.2012.03591.x.

PMID:
23005907
20.

Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.

Chang CY, Lin SP, Lin HY, Chuang CK, Ho CS, Hsu CH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):35-7.

PMID:
18581728

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