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3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "3-Hydroxy-3-methylglutaryl-CoA lyase deficiency" in English language version.

refsWebsite
Global rank English rank
22nih.gov
4th place
4th place
17doi.org
2nd place
2nd place
17worldcat.org
5th place
5th place

doi.org

  • Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M.; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Jörn Oliver (2017). "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients". Molecular Genetics and Metabolism. 121 (3). Elsevier BV: 206–215. doi:10.1016/j.ymgme.2017.05.014. ISSN 1096-7192. PMID 28583327.
  • Gibson, K. M.; Breuer, J.; Nyhan, W. L. (1988). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients". European Journal of Pediatrics. 148 (3): 180–186. doi:10.1007/BF00441397. ISSN 0340-6199. PMID 3063529.
  • Alfadhel, Majid; Abadel, Basma; Almaghthawi, Hind; Umair, Muhammad; Rahbeeni, Zuhair; Faqeih, Eissa; Almannai, Mohammed; Alasmari, Ali; Saleh, Mohammed; Eyaid, Wafaa; Alfares, Ahmed; Al Mutairi, Fuad (2022-05-13). "HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.880464. ISSN 1664-8021. PMC 9136170. PMID 35646072.
  • Pié, Juan; López-Viñas, Eduardo; Puisac, Beatriz; Menao, Sebastián; Pié, Angeles; Casale, Cesar; Ramos, Feliciano J.; Hegardt, Fausto G.; Gómez-Puertas, Paulino; Casals, Núria (2007). "Molecular genetics of HMG-CoA lyase deficiency". Molecular Genetics and Metabolism. 92 (3). Elsevier BV: 198–209. doi:10.1016/j.ymgme.2007.06.020. ISSN 1096-7192.
  • Menao, Sebastián; López-Viñas, Eduardo; Mir, Cecilia; Puisac, Beatriz; Gratacós, Esther; Arnedo, María; Carrasco, Patricia; Moreno, Susana; Ramos, Mónica; Gil, María Concepción; Pié, Ángeles; Ribes, Antonia; Pérez-Cerda, Celia; Ugarte, Magdalena; Clayton, Peter T.; Korman, Stanley H.; Serra, Dolors; Asins, Guillermina; Ramos, Feliciano J.; Gómez-Puertas, Paulino; Hegardt, Fausto G.; Casals, Nuria; Pié, Juan (2009-01-28). "Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria". Human Mutation. 30 (3). Hindawi Limited: E520–E529. doi:10.1002/humu.20966. ISSN 1059-7794. PMID 19177531.
  • Puisac, Beatriz; Arnedo, María; Casale, Cesar H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antonia; Pérez-Cerdá, Celia; Casals, Nuria; Hegardt, Fausto G.; Pié, Juan (2010-06-08). "Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria". Journal of Inherited Metabolic Disease. 33 (4). Wiley: 405–410. doi:10.1007/s10545-010-9097-3. ISSN 0141-8955. PMC 2903694. PMID 20532825.
  • Václavík, Jan; Mádrová, Lucie; Kouřil, Štěpán; de Sousa, Julie; Brumarová, Radana; Janečková, Hana; Jáčová, Jaroslava; Friedecký, David; Knapková, Mária; Kluijtmans, Leo A. J.; Grünert, Sarah C.; Vaz, Frédéric M.; Janzen, Nils; Wanders, Ronald J. A.; Wevers, Ron A.; Adam, Tomáš (2020). "A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency". JIMD Reports. 54 (1): 79–86. doi:10.1002/jmd2.12118. ISSN 2192-8312. PMC 7358667. PMID 32685354.
  • Thompson, Susan; Hertzog, Ashley; Selvanathan, Arthavan; Batten, Kiera; Lewis, Katherine; Nisbet, Janelle; Mitchell, Ashleigh; Dalkeith, Troy; Billmore, Kate; Moore, Francesca; Tolun, Adviye Ayper; Devanapalli, Beena; Bratkovic, Drago; Hilditch, Cathie; Rahman, Yusof; Tchan, Michel; Bhattacharya, Kaustuv (2023-01-19). "Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases". Nutrients. 15 (3). MDPI AG: 531. doi:10.3390/nu15030531. ISSN 2072-6643. PMC 9920477. PMID 36771238.
  • Wortmann, Saskia B.; Kluijtmans, Leo A.; Engelke, Udo F. H.; Wevers, Ron A.; Morava, Eva (2010-09-30). "The 3-methylglutaconic acidurias: what's new?". Journal of Inherited Metabolic Disease. 35 (1). Wiley: 13–22. doi:10.1007/s10545-010-9210-7. ISSN 0141-8955. PMC 3249181. PMID 20882351.
  • Morris, A. A. M. (2004-08-13). "Cerebral ketone body metabolism". Journal of Inherited Metabolic Disease. 28 (2). Wiley: 109–121. doi:10.1007/s10545-005-5518-0. ISSN 0141-8955.
  • Jones, Dylan E.; Perez, Leanne; Ryan, Robert O. (2020). "3-Methylglutaric acid in energy metabolism". Clinica Chimica Acta. 502. Elsevier BV: 233–239. doi:10.1016/j.cca.2019.11.006. ISSN 0009-8981. PMC 6994337. PMID 31730811.
  • Roland, Dominique; Jissendi-Tchofo, Patrice; Briand, Gilbert; Vamecq, Joseph; Fontaine, Monique; Ultré, Vincent; Acquaviva-Bourdain, Cécile; Mention, Karine; Dobbelaere, Dries (2017). "Coupled brain and urine spectroscopy — in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients". Molecular Genetics and Metabolism. 121 (2). Elsevier BV: 111–118. doi:10.1016/j.ymgme.2017.03.006. ISSN 1096-7192. PMID 28396157.
  • Mitchell, Grant A; Gauthier, Nicolas; Lesimple, Alain; Wang, Shu Pei; Mamer, Orval; Qureshi, Ijaz (2008). "Hereditary and acquired diseases of acyl-coenzyme A metabolism". Molecular Genetics and Metabolism. 94 (1). Elsevier BV: 4–15. doi:10.1016/j.ymgme.2007.12.005. ISSN 1096-7192. PMID 18337138.
  • Grünert, Sarah C.; Sass, Jörn Oliver (2020-02-14). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease — many faces". Orphanet Journal of Rare Diseases. 15 (1). Springer Science and Business Media LLC: 48. doi:10.1186/s13023-020-1319-7. ISSN 1750-1172. PMC 7023732. PMID 32059735.
  • Santarelli, Francesca; Cassanello, Michela; Enea, Ausilia; Poma, Francesca; D'Onofrio, Valentina; Guala, Giovanna; Garrone, Giangiacomo; Puccinelli, Paola; Caruso, Ubaldo; Porta, Francesco; Spada, Marco (2013). "A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency". Italian Journal of Pediatrics. 39 (1). Springer Science and Business Media LLC: 33. doi:10.1186/1824-7288-39-33. ISSN 1824-7288. PMC 3685558. PMID 23705938.
  • "Patient with Defect in Leucine Metabolism". New England Journal of Medicine. 294 (18). Massachusetts Medical Society: 1013. 1976-04-29. doi:10.1056/nejm197604292941823. ISSN 0028-4793.
  • Mitchell, G. A.; Robert, M. F.; Hruz, P. W.; Wang, S.; Fontaine, G.; Behnke, C. E.; Mende-Mueller, L. M.; Schappert, K.; Lee, C.; Gibson, K. M.; Miziorko, H. M. (1993-02-25). "3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency". The Journal of Biological Chemistry. 268 (6): 4376–4381. doi:10.1016/S0021-9258(18)53620-6. ISSN 0021-9258. PMID 8440722.

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M.; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Jörn Oliver (2017). "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients". Molecular Genetics and Metabolism. 121 (3). Elsevier BV: 206–215. doi:10.1016/j.ymgme.2017.05.014. ISSN 1096-7192. PMID 28583327.
  • Gibson, K. M.; Breuer, J.; Nyhan, W. L. (1988). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients". European Journal of Pediatrics. 148 (3): 180–186. doi:10.1007/BF00441397. ISSN 0340-6199. PMID 3063529.
  • Alfadhel, Majid; Abadel, Basma; Almaghthawi, Hind; Umair, Muhammad; Rahbeeni, Zuhair; Faqeih, Eissa; Almannai, Mohammed; Alasmari, Ali; Saleh, Mohammed; Eyaid, Wafaa; Alfares, Ahmed; Al Mutairi, Fuad (2022-05-13). "HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.880464. ISSN 1664-8021. PMC 9136170. PMID 35646072.
  • Menao, Sebastián; López-Viñas, Eduardo; Mir, Cecilia; Puisac, Beatriz; Gratacós, Esther; Arnedo, María; Carrasco, Patricia; Moreno, Susana; Ramos, Mónica; Gil, María Concepción; Pié, Ángeles; Ribes, Antonia; Pérez-Cerda, Celia; Ugarte, Magdalena; Clayton, Peter T.; Korman, Stanley H.; Serra, Dolors; Asins, Guillermina; Ramos, Feliciano J.; Gómez-Puertas, Paulino; Hegardt, Fausto G.; Casals, Nuria; Pié, Juan (2009-01-28). "Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria". Human Mutation. 30 (3). Hindawi Limited: E520–E529. doi:10.1002/humu.20966. ISSN 1059-7794. PMID 19177531.
  • Puisac, Beatriz; Arnedo, María; Casale, Cesar H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antonia; Pérez-Cerdá, Celia; Casals, Nuria; Hegardt, Fausto G.; Pié, Juan (2010-06-08). "Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria". Journal of Inherited Metabolic Disease. 33 (4). Wiley: 405–410. doi:10.1007/s10545-010-9097-3. ISSN 0141-8955. PMC 2903694. PMID 20532825.
  • Václavík, Jan; Mádrová, Lucie; Kouřil, Štěpán; de Sousa, Julie; Brumarová, Radana; Janečková, Hana; Jáčová, Jaroslava; Friedecký, David; Knapková, Mária; Kluijtmans, Leo A. J.; Grünert, Sarah C.; Vaz, Frédéric M.; Janzen, Nils; Wanders, Ronald J. A.; Wevers, Ron A.; Adam, Tomáš (2020). "A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency". JIMD Reports. 54 (1): 79–86. doi:10.1002/jmd2.12118. ISSN 2192-8312. PMC 7358667. PMID 32685354.
  • Thompson, Susan; Hertzog, Ashley; Selvanathan, Arthavan; Batten, Kiera; Lewis, Katherine; Nisbet, Janelle; Mitchell, Ashleigh; Dalkeith, Troy; Billmore, Kate; Moore, Francesca; Tolun, Adviye Ayper; Devanapalli, Beena; Bratkovic, Drago; Hilditch, Cathie; Rahman, Yusof; Tchan, Michel; Bhattacharya, Kaustuv (2023-01-19). "Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases". Nutrients. 15 (3). MDPI AG: 531. doi:10.3390/nu15030531. ISSN 2072-6643. PMC 9920477. PMID 36771238.
  • Wortmann, Saskia B.; Kluijtmans, Leo A.; Engelke, Udo F. H.; Wevers, Ron A.; Morava, Eva (2010-09-30). "The 3-methylglutaconic acidurias: what's new?". Journal of Inherited Metabolic Disease. 35 (1). Wiley: 13–22. doi:10.1007/s10545-010-9210-7. ISSN 0141-8955. PMC 3249181. PMID 20882351.
  • Jones, Dylan E.; Perez, Leanne; Ryan, Robert O. (2020). "3-Methylglutaric acid in energy metabolism". Clinica Chimica Acta. 502. Elsevier BV: 233–239. doi:10.1016/j.cca.2019.11.006. ISSN 0009-8981. PMC 6994337. PMID 31730811.
  • Roland, Dominique; Jissendi-Tchofo, Patrice; Briand, Gilbert; Vamecq, Joseph; Fontaine, Monique; Ultré, Vincent; Acquaviva-Bourdain, Cécile; Mention, Karine; Dobbelaere, Dries (2017). "Coupled brain and urine spectroscopy — in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients". Molecular Genetics and Metabolism. 121 (2). Elsevier BV: 111–118. doi:10.1016/j.ymgme.2017.03.006. ISSN 1096-7192. PMID 28396157.
  • Mitchell, Grant A; Gauthier, Nicolas; Lesimple, Alain; Wang, Shu Pei; Mamer, Orval; Qureshi, Ijaz (2008). "Hereditary and acquired diseases of acyl-coenzyme A metabolism". Molecular Genetics and Metabolism. 94 (1). Elsevier BV: 4–15. doi:10.1016/j.ymgme.2007.12.005. ISSN 1096-7192. PMID 18337138.
  • Grünert, Sarah C.; Sass, Jörn Oliver (2020-02-14). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease — many faces". Orphanet Journal of Rare Diseases. 15 (1). Springer Science and Business Media LLC: 48. doi:10.1186/s13023-020-1319-7. ISSN 1750-1172. PMC 7023732. PMID 32059735.
  • Santarelli, Francesca; Cassanello, Michela; Enea, Ausilia; Poma, Francesca; D'Onofrio, Valentina; Guala, Giovanna; Garrone, Giangiacomo; Puccinelli, Paola; Caruso, Ubaldo; Porta, Francesco; Spada, Marco (2013). "A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency". Italian Journal of Pediatrics. 39 (1). Springer Science and Business Media LLC: 33. doi:10.1186/1824-7288-39-33. ISSN 1824-7288. PMC 3685558. PMID 23705938.
  • Mitchell, G. A.; Robert, M. F.; Hruz, P. W.; Wang, S.; Fontaine, G.; Behnke, C. E.; Mende-Mueller, L. M.; Schappert, K.; Lee, C.; Gibson, K. M.; Miziorko, H. M. (1993-02-25). "3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency". The Journal of Biological Chemistry. 268 (6): 4376–4381. doi:10.1016/S0021-9258(18)53620-6. ISSN 0021-9258. PMID 8440722.

ncbi.nlm.nih.gov

worldcat.org

search.worldcat.org

  • Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M.; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Jörn Oliver (2017). "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients". Molecular Genetics and Metabolism. 121 (3). Elsevier BV: 206–215. doi:10.1016/j.ymgme.2017.05.014. ISSN 1096-7192. PMID 28583327.
  • Gibson, K. M.; Breuer, J.; Nyhan, W. L. (1988). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients". European Journal of Pediatrics. 148 (3): 180–186. doi:10.1007/BF00441397. ISSN 0340-6199. PMID 3063529.
  • Alfadhel, Majid; Abadel, Basma; Almaghthawi, Hind; Umair, Muhammad; Rahbeeni, Zuhair; Faqeih, Eissa; Almannai, Mohammed; Alasmari, Ali; Saleh, Mohammed; Eyaid, Wafaa; Alfares, Ahmed; Al Mutairi, Fuad (2022-05-13). "HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.880464. ISSN 1664-8021. PMC 9136170. PMID 35646072.
  • Pié, Juan; López-Viñas, Eduardo; Puisac, Beatriz; Menao, Sebastián; Pié, Angeles; Casale, Cesar; Ramos, Feliciano J.; Hegardt, Fausto G.; Gómez-Puertas, Paulino; Casals, Núria (2007). "Molecular genetics of HMG-CoA lyase deficiency". Molecular Genetics and Metabolism. 92 (3). Elsevier BV: 198–209. doi:10.1016/j.ymgme.2007.06.020. ISSN 1096-7192.
  • Menao, Sebastián; López-Viñas, Eduardo; Mir, Cecilia; Puisac, Beatriz; Gratacós, Esther; Arnedo, María; Carrasco, Patricia; Moreno, Susana; Ramos, Mónica; Gil, María Concepción; Pié, Ángeles; Ribes, Antonia; Pérez-Cerda, Celia; Ugarte, Magdalena; Clayton, Peter T.; Korman, Stanley H.; Serra, Dolors; Asins, Guillermina; Ramos, Feliciano J.; Gómez-Puertas, Paulino; Hegardt, Fausto G.; Casals, Nuria; Pié, Juan (2009-01-28). "Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria". Human Mutation. 30 (3). Hindawi Limited: E520–E529. doi:10.1002/humu.20966. ISSN 1059-7794. PMID 19177531.
  • Puisac, Beatriz; Arnedo, María; Casale, Cesar H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antonia; Pérez-Cerdá, Celia; Casals, Nuria; Hegardt, Fausto G.; Pié, Juan (2010-06-08). "Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria". Journal of Inherited Metabolic Disease. 33 (4). Wiley: 405–410. doi:10.1007/s10545-010-9097-3. ISSN 0141-8955. PMC 2903694. PMID 20532825.
  • Václavík, Jan; Mádrová, Lucie; Kouřil, Štěpán; de Sousa, Julie; Brumarová, Radana; Janečková, Hana; Jáčová, Jaroslava; Friedecký, David; Knapková, Mária; Kluijtmans, Leo A. J.; Grünert, Sarah C.; Vaz, Frédéric M.; Janzen, Nils; Wanders, Ronald J. A.; Wevers, Ron A.; Adam, Tomáš (2020). "A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency". JIMD Reports. 54 (1): 79–86. doi:10.1002/jmd2.12118. ISSN 2192-8312. PMC 7358667. PMID 32685354.
  • Thompson, Susan; Hertzog, Ashley; Selvanathan, Arthavan; Batten, Kiera; Lewis, Katherine; Nisbet, Janelle; Mitchell, Ashleigh; Dalkeith, Troy; Billmore, Kate; Moore, Francesca; Tolun, Adviye Ayper; Devanapalli, Beena; Bratkovic, Drago; Hilditch, Cathie; Rahman, Yusof; Tchan, Michel; Bhattacharya, Kaustuv (2023-01-19). "Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases". Nutrients. 15 (3). MDPI AG: 531. doi:10.3390/nu15030531. ISSN 2072-6643. PMC 9920477. PMID 36771238.
  • Wortmann, Saskia B.; Kluijtmans, Leo A.; Engelke, Udo F. H.; Wevers, Ron A.; Morava, Eva (2010-09-30). "The 3-methylglutaconic acidurias: what's new?". Journal of Inherited Metabolic Disease. 35 (1). Wiley: 13–22. doi:10.1007/s10545-010-9210-7. ISSN 0141-8955. PMC 3249181. PMID 20882351.
  • Morris, A. A. M. (2004-08-13). "Cerebral ketone body metabolism". Journal of Inherited Metabolic Disease. 28 (2). Wiley: 109–121. doi:10.1007/s10545-005-5518-0. ISSN 0141-8955.
  • Jones, Dylan E.; Perez, Leanne; Ryan, Robert O. (2020). "3-Methylglutaric acid in energy metabolism". Clinica Chimica Acta. 502. Elsevier BV: 233–239. doi:10.1016/j.cca.2019.11.006. ISSN 0009-8981. PMC 6994337. PMID 31730811.
  • Roland, Dominique; Jissendi-Tchofo, Patrice; Briand, Gilbert; Vamecq, Joseph; Fontaine, Monique; Ultré, Vincent; Acquaviva-Bourdain, Cécile; Mention, Karine; Dobbelaere, Dries (2017). "Coupled brain and urine spectroscopy — in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients". Molecular Genetics and Metabolism. 121 (2). Elsevier BV: 111–118. doi:10.1016/j.ymgme.2017.03.006. ISSN 1096-7192. PMID 28396157.
  • Mitchell, Grant A; Gauthier, Nicolas; Lesimple, Alain; Wang, Shu Pei; Mamer, Orval; Qureshi, Ijaz (2008). "Hereditary and acquired diseases of acyl-coenzyme A metabolism". Molecular Genetics and Metabolism. 94 (1). Elsevier BV: 4–15. doi:10.1016/j.ymgme.2007.12.005. ISSN 1096-7192. PMID 18337138.
  • Grünert, Sarah C.; Sass, Jörn Oliver (2020-02-14). "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease — many faces". Orphanet Journal of Rare Diseases. 15 (1). Springer Science and Business Media LLC: 48. doi:10.1186/s13023-020-1319-7. ISSN 1750-1172. PMC 7023732. PMID 32059735.
  • Santarelli, Francesca; Cassanello, Michela; Enea, Ausilia; Poma, Francesca; D'Onofrio, Valentina; Guala, Giovanna; Garrone, Giangiacomo; Puccinelli, Paola; Caruso, Ubaldo; Porta, Francesco; Spada, Marco (2013). "A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency". Italian Journal of Pediatrics. 39 (1). Springer Science and Business Media LLC: 33. doi:10.1186/1824-7288-39-33. ISSN 1824-7288. PMC 3685558. PMID 23705938.
  • "Patient with Defect in Leucine Metabolism". New England Journal of Medicine. 294 (18). Massachusetts Medical Society: 1013. 1976-04-29. doi:10.1056/nejm197604292941823. ISSN 0028-4793.
  • Mitchell, G. A.; Robert, M. F.; Hruz, P. W.; Wang, S.; Fontaine, G.; Behnke, C. E.; Mende-Mueller, L. M.; Schappert, K.; Lee, C.; Gibson, K. M.; Miziorko, H. M. (1993-02-25). "3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency". The Journal of Biological Chemistry. 268 (6): 4376–4381. doi:10.1016/S0021-9258(18)53620-6. ISSN 0021-9258. PMID 8440722.