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Quoted phrase not found in phrase index: "Hyperglycinemia, transient neonatal"
Page 1
Transient neonatal hyperglycinemia.
Schiffmann R, Kaye EM, Willis JK 3rd, Africk D, Ampola M. Schiffmann R, et al. Ann Neurol. 1989 Feb;25(2):201-3. doi: 10.1002/ana.410250218. Ann Neurol. 1989. PMID: 2919871
Two patients with neonatal seizures and subsequent normal neurological development were found to have nonketotic hyperglycinemia. ...The possible mechanisms for the hyperglycinemia are discussed....
Two patients with neonatal seizures and subsequent normal neurological development were found to have nonketotic hyperglycinemia …
Neonatal nonketotic hyperglycinemia.
Bhamkar RP, Colaco P. Bhamkar RP, et al. Indian J Pediatr. 2007 Dec;74(12):1124-6. doi: 10.1007/s12098-007-0212-x. Indian J Pediatr. 2007. PMID: 18174652
Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. ...
Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal …
Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.
Dulac O. Dulac O. Handb Clin Neurol. 2013;113:1785-97. doi: 10.1016/B978-0-444-59565-2.00048-4. Handb Clin Neurol. 2013. PMID: 23622401 Review.
Bursts of paroxysmal activity alternating with lack of activity define the suppression-burst (SB) pattern that may be acute, in hypoxic-ischemic encephalopathy and barbiturate intoxication, or chronic in the course of early epileptic and neonatal myoclonic (NME) enc …
Bursts of paroxysmal activity alternating with lack of activity define the suppression-burst (SB) pattern that may be acute, in hypoxic-isch …
Transient nonketotic hyperglycinemia: two case reports and literature review.
Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Aliefendioğlu D, et al. Pediatr Neurol. 2003 Feb;28(2):151-5. doi: 10.1016/s0887-8994(02)00501-5. Pediatr Neurol. 2003. PMID: 12699870 Review.
Therefore, distinguishing the transient form of nonketotic hyperglycinemia from classic nonketotic hyperglycinemia is important to predict outcome of the patients. Transient nonketotic hyperglycinemia has been reported in only seven ne …
Therefore, distinguishing the transient form of nonketotic hyperglycinemia from classic nonketotic hyperglycinemia is i …
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB, Wortmann SB, Van Hove JLK. Stence NV, et al. J Inherit Metab Dis. 2019 May;42(3):438-450. doi: 10.1002/jimd.12072. Epub 2019 Mar 20. J Inherit Metab Dis. 2019. PMID: 30737808
Patients with severe nonketotic hyperglycinemia (NKH) have absent psychomotor development and intractable epilepsy, whereas attenuated patients have variable psychomotor development and absent or treatable epilepsy; differences in brain magnetic resonance imaging (MRI) bet …
Patients with severe nonketotic hyperglycinemia (NKH) have absent psychomotor development and intractable epilepsy, whereas attenuate …
Nonketotic Hyperglycinemia: Two Case Reports and Review.
Poothrikovil RP, Al Thihli K, Al Futaisi A, Al Murshidi F. Poothrikovil RP, et al. Neurodiagn J. 2019;59(3):142-151. doi: 10.1080/21646821.2019.1645549. Epub 2019 Aug 21. Neurodiagn J. 2019. PMID: 31433733
Atypical forms of NKH present with heterogeneous and nonspecific disease course. Classical glycine encephalopathy usually carries a very poor prognosis. We describe two neonates who presented with neonatal encephalopathy, apnea, and progressive letharg …
Atypical forms of NKH present with heterogeneous and nonspecific disease course. Classical glycine encephalopathy usually carries a v …
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.
Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH. Boneh A, et al. Mol Genet Metab. 2008 Jun;94(2):143-7. doi: 10.1016/j.ymgme.2008.02.010. Epub 2008 Apr 18. Mol Genet Metab. 2008. PMID: 18395481 Review.
Affected neonates may need ventilatory support during a short period of respiratory depression. ...The occurrence of patients with apparent transient forms of the disease, albeit rare, adds uncertainty to the prediction of clinical outcome and dictates that t …
Affected neonates may need ventilatory support during a short period of respiratory depression. ...The occurrence of patients with ap …
Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizures.
Lin FY, Gascon GG, Hyland K, Chugani H, Chugani D. Lin FY, et al. J Child Neurol. 2006 Oct;21(10):900-3. doi: 10.1177/08830738060210101001. J Child Neurol. 2006. PMID: 17005111
Neonatal nonketotic hyperglycinemia is usually fatal or, less commonly, severely developmentally disabling, whereas transient nonketotic hyperglycinemia has usually been followed by normal development. We report a boy who had transient neonat …
Neonatal nonketotic hyperglycinemia is usually fatal or, less commonly, severely developmentally disabling, whereas transie …
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Korman SH, Boneh A, Ichinohe A, Kojima K, Sato K, Ergaz Z, Gomori JM, Gutman A, Kure S. Korman SH, et al. Ann Neurol. 2004 Jul;56(1):139-43. doi: 10.1002/ana.20159. Ann Neurol. 2004. PMID: 15236413
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, …
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration a …
Transient neonatal nonketotic hyperglycinemia: a 13-year follow-up.
Zammarchi E, Donati MA, Ciani F. Zammarchi E, et al. Neuropediatrics. 1995 Dec;26(6):328-30. doi: 10.1055/s-2007-979785. Neuropediatrics. 1995. PMID: 8719751
We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencephalographic findings were consistent with neonatal nonketotic hyperglycinemia. The normalization of clinical, biochemical and …
We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencep …
15 results