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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1977 1
1979 1
1983 1
1985 1
1986 1
1992 1
1998 1
2001 2
2002 2
2003 1
2004 2
2005 2
2007 1
2009 1
2011 1
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2013 1
2014 1
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34 results

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Page 1
Non-ketotic hyperglycinemia: a life-threatening disorder in the neonate.
Tada K, Kure S, Takayanagi M, Kume A, Narisawa K. Tada K, et al. Early Hum Dev. 1992 Jun-Jul;29(1-3):75-81. doi: 10.1016/0378-3782(92)90060-t. Early Hum Dev. 1992. PMID: 1396281 Review.
Non-ketotic hyperglycinemia (NKH) is a well-recognized metabolic cause of life-threatening illness in the neonate. ...
Non-ketotic hyperglycinemia (NKH) is a well-recognized metabolic cause of life-threatening illness in the neonate. ...
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K. Alfadhel M, et al. Neurosciences (Riyadh). 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542. Neurosciences (Riyadh). 2017. PMID: 28064324 Free PMC article. Review.
Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions …
Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hered …
Early myoclonic encephalopathy.
Kamate M, Mahantshetti N, Chetal V. Kamate M, et al. Indian Pediatr. 2009 Sep;46(9):804-6. Indian Pediatr. 2009. PMID: 19812426 Free article.
We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia....
We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia....
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Kure S. Kure S. Brain Dev. 2011 Oct;33(9):753-7. doi: 10.1016/j.braindev.2011.03.001. Epub 2011 Apr 5. Brain Dev. 2011. PMID: 21470805 Review.
Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused by inherited deficiency of the glycine cleavage system (GCS). ...
Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused …
Prenatal diagnosis of non-ketotic hyperglycinemia.
Applegarth DA, Levy HL, Shih VE, McGillivray B, Wong JT, Toone JR, Kirby LT. Applegarth DA, et al. Prenat Diagn. 1986 Jul-Aug;6(4):257-63. doi: 10.1002/pd.1970060405. Prenat Diagn. 1986. PMID: 3092206
We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this …
We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and …
Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening.
Tan ES, Wiley V, Carpenter K, Wilcken B. Tan ES, et al. Mol Genet Metab. 2007 Apr;90(4):446-8. doi: 10.1016/j.ymgme.2006.11.010. Epub 2007 Jan 4. Mol Genet Metab. 2007. PMID: 17207649
Diagnosis of Non-Ketotic Hyperglycinemia by MSMS newborn screening might benefit patients with post-neonatal presentation. ...
Diagnosis of Non-Ketotic Hyperglycinemia by MSMS newborn screening might benefit patients with post-neonatal presentati …
Diffusion-weighted MR imaging in leukodystrophies.
Patay Z. Patay Z. Eur Radiol. 2005 Nov;15(11):2284-303. doi: 10.1007/s00330-005-2846-2. Epub 2005 Jul 15. Eur Radiol. 2005. PMID: 16021451 Review.
Absent or low-grade myelin edema is found in mucopolysaccharidoses, GM gangliosidoses, Zellweger disease, adrenomyeloneuropathy, L-2-hydroxyglutaric aciduria, non-ketotic hyperglycinemia, classical phenylketonuria, Van der Knaap disease and the vanishing whit …
Absent or low-grade myelin edema is found in mucopolysaccharidoses, GM gangliosidoses, Zellweger disease, adrenomyeloneuropathy, L-2-hydroxy …
Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.
Kisa PT, Uzun OU, Gunduz M, Bulbul FS, Kose E, Arslan N. Kisa PT, et al. Arch Pediatr. 2021 Nov;28(8):702-706. doi: 10.1016/j.arcped.2021.09.008. Epub 2021 Oct 5. Arch Pediatr. 2021. PMID: 34620546
The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galact …
The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syru …
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Collardeau-Frachon S, Cordier MP, Rossi M, Guibaud L, Vianey-Saban C. Collardeau-Frachon S, et al. J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106218 Review.
The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synthesis disorders, congenital disorders of glycosylation, glycogenosis type IV, mitochondrial respiratory chain disorders, transaldolase defici …
The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synth …
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. Baker PR 2nd, et al. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.
34 results