Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Kahraman AB et al.
Turkish Archives of Pediatrics, 2025
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program.
Al Mutairi F et al.
Molecular Genetics and Metabolism Reports, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
Alfadhel M et al.
Frontiers in Genetics, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.
Holdar S et al.
Journal of Pediatric Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel.
Shalev SA
Clinical Genetics, 2019
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.
Sulaiman RA et al.
Jimd Reports, 2018
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Leipnitz G et al.
Journal of Inherited Metabolic Disease, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
[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
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
Molecular genetics of HMG-CoA lyase deficiency.
Pié J et al.
Molecular Genetics and Metabolism, 2007
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
Al-Sayed M et al.
Bmc Medical Genetics, 2006
Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
Fu Z et al.
The Journal of Biological Chemistry, 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
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.
Tuinstra RL et al.
Biochemistry, 2004
Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
Pie J et al.
Journal of Physiology and Biochemistry, 2003
Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.
Tuinstra RL et al.
The Journal of Biological Chemistry, 2003
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Casals N et al.
The Journal of Biological Chemistry, 2003
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
Pospísilová E et al.
Journal of Inherited Metabolic Disease, 2003
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
Bouchard L et al.
Pediatric Research, 2001
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Muroi J et al.
Human Genetics, 2000
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
Mitchell GA et al.
American Journal of Human Genetics, 1998