Associated Papers
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Kahraman AB et al.
Turkish Archives of Pediatrics, 2025
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency and type 2 diabetes mellitus presenting in adulthood.
Porto Fuentes Ó et al.
Medicina Clinica, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
Alfadhel M et al.
Frontiers in Genetics, 2022
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.
Oshima Y et al.
Journal of Human Genetics, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert SC et al.
Molecular Genetics and Metabolism, 2017
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Roland D et al.
Molecular Genetics and Metabolism, 2017
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Muñoz-Bonet JI et al.
Italian Journal of Pediatrics, 2017
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Köksal T et al.
Indian Journal of Pediatrics, 2015
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Puisac B et al.
Molecular Genetics and Metabolism, 2013
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].
Pierron S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2010
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.
Reimão S et al.
Journal of Inherited Metabolic Disease, 2009
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Lin WD et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S et al.
Human Mutation, 2009
Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.
Vargas CR et al.
Journal of Inherited Metabolic Disease, 2008
Molecular genetics of HMG-CoA lyase deficiency.
Pié J et al.
Molecular Genetics and Metabolism, 2007
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
Mir C et al.
Journal of Inherited Metabolic Disease, 2006
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Puisac B et al.
Biophysical Chemistry, 2005
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
Cardoso ML et al.
Molecular Genetics and Metabolism, 2004
Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
Pie J et al.
Journal of Physiology and Biochemistry, 2003
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
Pospísilová E et al.
Journal of Inherited Metabolic Disease, 2003
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Muroi J et al.
Human Genetics, 2000