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Year Number of Results
1978 1
1979 1
1980 1
1982 2
1984 1
1986 5
1989 1
1990 4
1992 1
1993 1
1994 2
1995 2
1996 1
1997 1
1998 2
1999 2
2000 1
2001 1
2004 2
2005 1
2006 1
2007 1
2008 3
2009 4
2011 1
2012 1
2013 5
2014 1
2015 6
2016 3
2017 5
2018 2
2019 3
2020 4
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2022 5
2023 3
2024 5
2025 0

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81 results

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Page 1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain …
An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect …
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, Mitchell A, Dalkeith T, Billmore K, Moore F, Tolun AA, Devanapalli B, Bratkovic D, Hilditch C, Rahman Y, Tchan M, Bhattacharya K. Thompson S, et al. Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531. Nutrients. 2023. PMID: 36771238 Free PMC article. Review.
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. ...Of the cohort, there were two pati …
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metab …
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.
Holdar S, Rahbeeni Z, Ramzan K, Imtiaz F. Holdar S, et al. J Pediatr Genet. 2021 Jun;10(2):105-110. doi: 10.1055/s-0040-1714698. Epub 2020 Jul 29. J Pediatr Genet. 2021. PMID: 33996180 Free PMC article.
3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous or compound heterozygous mutation in the HMGCL gene (chromosome 1p36.11). ...We evaluated 50 cases of HMGCL deficiency. Hepat …
3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous …
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Lin WD, Wang CH, Lai CC, Tsai Y, Wu JY, Chen CP, Tsai FJ. Lin WD, et al. Clin Chim Acta. 2009 Mar;401(1-2):33-6. doi: 10.1016/j.cca.2008.11.004. Epub 2008 Nov 12. Clin Chim Acta. 2009. PMID: 19036343
BACKGROUND: 3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HL deficiency) is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-Hydroxy-3-methylglutaryl CoA lyase (HMGCL). ...
BACKGROUND: 3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HL deficiency) is a rare autos …
3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency.
Ploechl E, Bachmann C, Colombo JP, Gibson KM. Ploechl E, et al. J Inherit Metab Dis. 1989;12(3):343. doi: 10.1007/BF01799236. J Inherit Metab Dis. 1989. PMID: 2515385 No abstract available.
Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency.
Walter JH, Clayton PT, Leonard JV. Walter JH, et al. J Inherit Metab Dis. 1986;9(3):287-8. doi: 10.1007/BF01799665. J Inherit Metab Dis. 1986. PMID: 3099075 No abstract available.
81 results