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Results: 1 to 20 of 40

1.

High phenobarbital clearance during continuous renal replacement therapy: a case report and pharmacokinetic analysis.

Rosenborg S, Saraste L, Wide K.

Medicine (Baltimore). 2014 Aug;93(7):e46. doi: 10.1097/MD.0000000000000046.

PMID:
25101986
2.

Dermatitis and dangerous diets: a case of kwashiorkor.

Rogers AS, Shaughnessy KK, Davis LS.

JAMA Dermatol. 2014 Aug;150(8):910-1. doi: 10.1001/jamadermatol.2013.10328. No abstract available.

PMID:
24807070
3.

Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.

Brenton JN, Rust RS.

Pediatr Neurol. 2014 May;50(5):536-8. doi: 10.1016/j.pediatrneurol.2014.01.018. Epub 2014 Jan 11.

PMID:
24731848
4.

Recurrent hemichorea-hemiballism with non-ketotic hyperglycemia.

Shin HW, Park KY, Youn YC.

Neurol Sci. 2014 Jun;35(6):933-4. doi: 10.1007/s10072-014-1673-0. Epub 2014 Feb 23. No abstract available.

PMID:
24563150
5.

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Ezgu F, Çiftci B, Topçu B, Adıyaman G, Gökmenoğlu H, Küçükçongar A, Kasapkara Ç, Biberoğlu G, Tümer L, Hasanoğlu A.

Metab Brain Dis. 2014 Mar;29(1):211-3. doi: 10.1007/s11011-014-9482-y. Epub 2014 Jan 11.

PMID:
24407464
6.

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.

7.

Isolated aphasic status epilepticus as initial presentation of nonketotic hyperglycemia.

Huang LC, Ruge D, Tsai CL, Wu MN, Hsu CY, Lai CL, Liou LM.

Clin EEG Neurosci. 2014 Apr;45(2):126-8. doi: 10.1177/1550059413490930. Epub 2013 Sep 4.

PMID:
24004489
8.

Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase.

Kanekar S, Byler D.

Metab Brain Dis. 2013 Dec;28(4):717-20. doi: 10.1007/s11011-013-9415-1. Epub 2013 May 29.

PMID:
23712728
9.

Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.

Dulac O.

Handb Clin Neurol. 2013;113:1785-97. doi: 10.1016/B978-0-444-59565-2.00048-4. Review.

PMID:
23622401
10.

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
11.

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S.

J Child Neurol. 2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24.

PMID:
23349517
12.

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
13.

Hemichorea associated with nonketotic hyperglycemia in a female.

Song CG, Yang X, Xing GH, Zhao CS.

Neuro Endocrinol Lett. 2012;33(5):489-92.

PMID:
23090265
14.

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
15.

A rare inborn error of metabolism associated with a Dandy-Walker malformation.

Manel L, Houneida ZB, Habib A, Dejla B, Chekib K.

Acta Neurol Belg. 2012 Dec;112(4):425-6. doi: 10.1007/s13760-012-0098-x. Epub 2012 Jun 15. No abstract available.

16.

Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy.

Menéndez Suso JJ, Del Cerro Marín MJ, Dorao Martínez-Romillo P, Labrandero de Lera C, Fernández García-Moya L, Rodríguez González JI.

J Pediatr. 2012 Sep;161(3):557-9. doi: 10.1016/j.jpeds.2012.04.044. Epub 2012 Jun 1.

PMID:
22658788
17.

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
18.

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
19.

Generalized chorea-ballism in acute non ketotic hyperglycemia: findings from diffusion-weighted magnetic resonance imaging.

Massaro F, Palumbo P, Falcini M, Zanfranceschi G, Pratesi A.

Parkinsonism Relat Disord. 2012 Sep;18(8):998-9. doi: 10.1016/j.parkreldis.2012.04.008. Epub 2012 Apr 26. No abstract available.

PMID:
22541441
20.

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
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