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Journal Abstract Search

223 related items for PubMed ID: 31433733

  • 21. 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. PubMed ID: 20933183
    [Abstract] [Full Text] [Related]

  • 22. Dysplasia of the corpus callosum in identical twins with nonketotic hyperglycinemia.
    Rogers T, al-Rayess M, O'Shea P, Ambler MW.
    Pediatr Pathol; 1991 Nov; 11(6):897-902. PubMed ID: 1775403
    [Abstract] [Full Text] [Related]

  • 23.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Van Hove JLK, Coughlin C, Swanson M, Hennermann JB.
    ; 1993 Nov. PubMed ID: 20301531
    [Abstract] [Full Text] [Related]

  • 24. Nonketotic Hyperglycinemia of Infants in Taiwan.
    Chiu CF, Lin JL, Lin JJ, Tseng MH, Lo FS, Chiang MC.
    Pediatr Neonatol; 2016 Oct; 57(5):420-426. PubMed ID: 26947380
    [Abstract] [Full Text] [Related]

  • 25. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
    Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR, Hennermann JB, Wortmann SB, Van Hove JLK.
    J Inherit Metab Dis; 2019 May; 42(3):438-450. PubMed ID: 30737808
    [Abstract] [Full Text] [Related]

  • 26. Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia.
    Paupe A, Bidat L, Sonigo P, Lenclen R, Molho M, Ville Y.
    Ultrasound Obstet Gynecol; 2002 Dec; 20(6):616-9. PubMed ID: 12493053
    [Abstract] [Full Text] [Related]

  • 27. 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. PubMed ID: 22633639
    [Abstract] [Full Text] [Related]

  • 28. 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. PubMed ID: 22610665
    [Abstract] [Full Text] [Related]

  • 29. 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. PubMed ID: 12971536
    [Abstract] [Full Text] [Related]

  • 30. 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. PubMed ID: 24838951
    [Abstract] [Full Text] [Related]

  • 31. A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
    Belcastro V, Barbarini M, Barca S, Mauro I.
    Eur J Paediatr Neurol; 2016 Jan; 20(1):192-5. PubMed ID: 26371980
    [Abstract] [Full Text] [Related]

  • 32. Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
    Majethia P, Somashekar PH, Hebbar M, Kadavigere R, Praveen BK, Girisha KM, Shukla A.
    Clin Genet; 2021 Aug; 100(2):201-205. PubMed ID: 33890291
    [Abstract] [Full Text] [Related]

  • 33. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
    Swanson MA, Coughlin CR, 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. PubMed ID: 26179960
    [Abstract] [Full Text] [Related]

  • 34. Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant.
    Choi CG, Lee HK, Yoon JH.
    Korean J Radiol; 2001 Oct; 2(4):239-42. PubMed ID: 11754333
    [Abstract] [Full Text] [Related]

  • 35. A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate.
    Yurttutan S, Oncel MY, Yurttutan N, Degirmencioglu H, Uras N, Dilmen U.
    Korean J Pediatr; 2015 Jun; 58(6):230-3. PubMed ID: 26213552
    [Abstract] [Full Text] [Related]

  • 36. 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. PubMed ID: 21335543
    [Abstract] [Full Text] [Related]

  • 37. 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. PubMed ID: 24004489
    [Abstract] [Full Text] [Related]

  • 38. 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. PubMed ID: 22532538
    [Abstract] [Full Text] [Related]

  • 39. 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. PubMed ID: 10573469
    [Abstract] [Full Text] [Related]

  • 40. [Non-ketonic hyperglycinemia].
    Cabalska B.
    Med Wieku Rozwoj; 2000 Jul; 4(3):317-27. PubMed ID: 11093349
    [Abstract] [Full Text] [Related]

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