JCI - Citations to Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency. A CAUSE FOR KETOACIDOSIS IN INFANCY

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Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency. A CAUSE FOR KETOACIDOSIS IN INFANCY

J. Tyson Tildon, Marvin Cornblath

J. Tyson Tildon, Marvin Cornblath

Published March 1, 1972
Citation Information: J Clin Invest. 1972;51(3):493-498. https://doi.org/10.1172/JCI106837.

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Citations to this article (78)

Title and authors	Publication	Year
[Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report]. Jurado-Aguirre MA, Pérez-Verdín AE		2023
A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations. Dhammi N, Essakow J, Gallagher R, Gaw C	SAGE Open Medical Case Reports	2022
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease SC Grünert, W Foster, A Schumann, A Lund, C Pontes, S Roloff, N Weinhold, WW Yue, A AlAsmari, OA Obaid, EA Faqeih, L Stübbe, R Yamamoto, C Gemperle-Britschgi, M Walter, U Spiekerkötter, S Mackinnon, JO Sass	Biochimie	2021
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases MA Alghamdi, M Tohary, H Alzaidan, F Imtiaz, ZN AlHassnan	JIMD reports	2021
Ketoliz defekti tanısıyla izlenen 16 hastanın klinik ve moleküler özelliklerinin incelenmesi: Tek merkez deneyimi FD BULUT, D KOR, S KILAVUZ, B ŞEKER, N ÖZCAN, F INCECİK, A BİŞGİN, D YILDIZDAŞ, HN MUNGAN		2020
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency YA Kim, SH Kim, CK Cheon, YM Kim	Yonsei Medical Journal	2019
A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency S Al-Khawaga, J AlRayahi, F Khan, S Saraswathi, R Hasnah, B Haris, I Mohammed, EM Abdelalim, K Hussain	Frontiers in Pediatrics	2019
Mitochondrial Diseases E Taskin, C Guven, Y Sevgiler		2018
Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics P Puchalska, PA Crawford	Cell Metabolism	2017
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis H Sasai, Y Aoyama, H Otsuka, E Abdelkreem, Y Naiki, M Kubota, Y Sekine, M Itoh, M Nakama, H Ohnishi, R Fujiki, O Ohara, T Fukao	Journal of Inherited Metabolic Disease	2017
Breath acetone as a potential marker in clinical practice V Ruzsányi, MP Kalapos	Journal of Breath Research	2017
The role of OXCT1 in the pathogenesis of cancer as a rate-limiting enzyme of ketone body metabolism S Zhang, C Xie	Life Sciences	2017
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene D Zheng, M Hooper, M Spencer-Manzon, R Pierce		2017
β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms LB Achanta, CD Rae	Neurochemical Research	2016
A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis S Erdol, M Ture, T Yakut, H Saglam, H Sasai, E Abdelkreem, H Otsuka, T Fukao	Journal of Inborn Errors of Metabolism and Screening	2016
Inborn errors of ketone body utilization: Inborn errors of ketone body utilization T Hori, S Yamaguchi, H Shinkaku, R Horikawa, Y Shigematsu, M Takayanagi, T Fukao	Pediatrics International	2015
Metabolic Alterations in Developing Brain After Injury: Knowns and Unknowns MC McKenna, S Scafidi, CL Robertson	Neurochemical Research	2015
Cardiomyocyte-specific deficiency of ketone body metabolism promotes accelerated pathological remodeling RC Schugar, AR Moll, DA d’Avignon, CJ Weinheimer, A Kovacs, PA Crawford	Molecular Metabolism	2014
Ketone body metabolism and its defects T Fukao, G Mitchell, JO Sass, T Hori, K Orii, Y Aoyama	Journal of Inherited Metabolic Disease	2014
Ketone body metabolism and cardiovascular disease DG Cotter, RC Schugar, PA Crawford	American journal of physiology. Heart and circulatory physiology	2013
Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts T Hori, T Fukao, K Murase, N Sakaguchi, CO Harding, N Kondo	Human Mutation	2013
Characterization of propionate CoA-transferase from Ralstonia eutropha H16 E Volodina, M Schürmann, N Lindenkamp, A Steinbüchel	Applied Microbiology and Biotechnology	2013
Impact of peripheral ketolytic deficiency on hepatic ketogenesis and gluconeogenesis during the transition to birth DG Cotter, B Ercal, DA d'Avignon, DJ Dietzen, PA Crawford	The Journal of biological chemistry	2013
Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation DG Cotter, RC Schugar, AE Wentz, DA d'Avignon, PA Crawford	American journal of physiology. Endocrinology and metabolism	2013
Ketone body metabolism and cardiovascular disease DG Cotter, RC Schugar, PA Crawford	American journal of physiology. Heart and circulatory physiology	2013
Energy Metabolism of the Brain MC McKenna, GA Dienel, U Sonnewald, HS Waagepetersen, A Schousboe	Basic Neurochemistry	2012
Inborn errors of ketogenesis and ketone body utilization JO Sass	Journal of Inherited Metabolic Disease	2011
Acute starvation in pregnancy: a cause of severe metabolic acidosis A Patel, D Felstead, M Doraiswami, GM Stocks, U Waheed	International Journal of Obstetric Anesthesia	2011
Fetal and Neonatal Physiology LH Johnson, VK Bhutani	Fetal and Neonatal Physiology	2011
Altered Systemic Ketone Body Metabolism in Advanced Heart Failure A Janardhan, J Chen, PA Crawford	Texas Heart Institute Journal	2011
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency T Fukao, JO Sass, P Kursula, E Thimm, U Wendel, C Ficicioglu, K Monastiri, N Guffon, I Barić, M Zabot, N Kondo	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2011
Obligate Role for Ketone Body Oxidation in Neonatal Metabolic Homeostasis DG Cotter, DA d'Avignon, AE Wentz, ML Weber, PA Crawford	The Journal of biological chemistry	2011
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene T Fukao, T Ishii, N Amano, P Kursula, M Takayanagi, K Murase, N Sakaguchi, N Kondo, T Hasegawa	Journal of Inherited Metabolic Disease	2010
Proteomics-based study on asthenozoospermia: differential expression of proteasome alpha complex AB Siva, DB Kameshwari, V Singh, K Pavani, CS Sundaram, N Rangaraj, M Deenadayal, S Shivaji	Molecular Human Reproduction	2010
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment A Milunsky	Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment	2010
Management and communication problems in a patient with succinyl-CoA transferase deficiency in pregnancy and labour S Merron, R Akhtar	International Journal of Obstetric Anesthesia	2009
Evaluation of Diagnostic Fasting in the Investigation of Hypoglycemia in Children Omani Experienc B Bappal, WA Mula-Abed	Oman Medical Journal	2007
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene K Yamada, T Fukao, G Zhang, S Sakurai, JP Ruiter, RJ Wanders, N Kondo	Molecular Genetics and Metabolism	2007
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency T Fukao, S Sakurai, MO Rolland, MT Zabot, A Schulze, K Yamada, N Kondo	Molecular Genetics and Metabolism	2006
Patients Homozygous for the T435N Mutation of Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Do Not Show Permanent Ketosis T Fukao, H Shintaku, R Kusubae, GX Zhang, K Nakamura, M Kondo, N Kondo	Pediatric Research	2004
Blue Books of Practical Neurology PE Hart, DC de Vivo, AH Schapira	Blue Books of Practical Neurology	2002
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency GT Berry, T Fukao, GA Mitchell, A Mazur, M Ciafre, J Gibson, N Kondo, MJ Palmieri	Journal of Inherited Metabolic Disease	2001
A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity I Barić, V Sarnavka, K Fumić, M Maradin, D Begović, JP Ruiter, RJ Wanders	Journal of Inherited Metabolic Disease	2001
Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mutations T Fukao, GA Mitchell, XQ Song, H Nakamura, S Kassovska-Bratinova, KE Orii, JE Wraith, G Besley, RJ Wanders, KE Niezen-Koning, GT Berry, M Palmieri, N Kondo	Genomics	2000
Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin H Watanabe, S Yamaguchi, M Kimura, A Wakazono, XQ Song, T Fukao, T Orii, T Hashimoto	The Tohoku Journal of Experimental Medicine	1998
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings XQ Song, T Fukao, H Watanabe, H Shintaku, K Hirayama, S Kassovska-Bratinova, N Kondo, GA Mitchell	Human Mutation	1998
Enzymes of Ketone Body Utilization in Human Tissues: Protein and Messenger RNA Levels of Succinyl-Coenzyme A (CoA):3-Ketoacid CoA Transferase and Mitochondrial and Cytosolic Acetoacetyl-CoA Thiolases T Fukao, XQ Song, GA Mitchell, S Yamaguchi, K Sukegawa, T Or, N Kondo	Pediatric Research	1997
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): Development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency XQ Song, T Fukao, GA Mitchell, S Kassovska-Bratinova, M Ugarte, RJ Wanders, K Hirayama, H Shintaku, P Churchill, H Watanabe, T Orii, N Kondo	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	1997
Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts CJ Pretorius, GG Son, F Bonnici, EH Harley	Journal of Inherited Metabolic Disease	1996
PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME A:3-KETOACID COENZYME A TRANSFERASE DEFICIENCY T Fukao, XQ Song, H Watanabe, K Hirayama, H Sakazaki, H Shintaku, M Imanaka, T Orii, N Kondo	Prenatal Diagnosis	1996
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient S Kassovska-Bratinova, T Fukao, XQ Song, AM Duncan, HS Chen, MF Robert, C Pérez-Cerdá, M Ugarte, C Chartrand, S Vobecky, N Kondo, GA Mitchell	The American Journal of Human Genetics	1996
A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency H Sakazaki, K Hirayama, S Murakami, S Yonezawa, H Shintaku, Y Sawada, T Fukao, H Watanabe, T Orii, G Isshiki	Journal of Inherited Metabolic Disease	1995
A new case of succinyl-CoA: Acetoacetate transferase deficiency C Pérez-Cerdá, B Merinero, P Sanz, A Jiménez, C Hernández, MJ Garcia, M Ugarte	Journal of Inherited Metabolic Disease	1992
Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey JM Saudubray, H Ogier, JP Bonnefont, A Munnich, A Lombes, F Hervé, G Mitchel, BP Thé, N Specola, P Parvy, J Bardet, D Rabier, M Coudé, C Charpentier, J Frézal	Journal of Inherited Metabolic Disease	1989
Studies in Inherited Metabolic Disease GM Addison, JM Connor, RA Harkness, RJ Pollitt		1989
The biochemical basis of mitochondrial diseases HR Scholte	Journal of Bioenergetics and Biomembranes	1988
Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA-transferase B Middleton, R Day, A Lombes, JM Saudubray	Journal of Inherited Metabolic Disease	1987
Model Systems of Development and Aging of the Nervous System A Vernadakis, A Privat, JM Lauder, PS Timiras, E Giacobini		1987
Genetic Disorders and the Fetus A Milunsky		1986
Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation MJ Bennett, GP Hosking, MF Smith, RG Gray, B Middleton	Journal of Inherited Metabolic Disease	1984
Symptoms and signs in organic acidurias NJ Brandt	Journal of Inherited Metabolic Disease	1984
10 Metabolic acidosis in the newborn period TD Barela, JD Johnson, A Hayek	Clinics in Endocrinology and Metabolism	1983
Fat-derived fuels during a 24-hour fast in children JI Wolfsdorf, A Sadeghi-Nejad, B Senior	European Journal of Pediatrics	1982
Organic Acids in Man RA Chalmers, AM Lawson		1982
Screening for organic acidurias and amino acidopathies in newborns and children RA Chalmers, P Purkiss, RW Watts, AM Lawson	Journal of Inherited Metabolic Disease	1980
Neonatal Screening for Inborn Errors of Metabolism H Bickel, R Guthrie, G Hammersen		1980
Food intolerance in humans RH Herman, L Hagler	The Western journal of medicine	1979
Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism BH Robinson, WG Sherwood, J Taylor, JW Balfe, OA Mamer	The Journal of Pediatrics	1979
Genetic-Metabolic Considerations in the Sick Neonate KA Aleck, LJ Shapiro	Pediatric Clinics of North America	1978
Metabolic screening of the newborn infant NR Buist	Clinics in Endocrinology and Metabolism	1976
Reflections on Biochemistry F Grande	Reflections on Biochemistry	1976
Organic Acidemias MJ Mahoney	Clinics in Perinatology	1976
ABNORMAL ORGANIC ACIDURIAS IN MENTALLY RETARDED PATIENTS RW Watts, RA Chalmers, AM Lawson	The Lancet	1975
Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis S Landaas	Clinica Chimica Acta	1975
Biology of Brain Dysfunction GE Gaull		1975
Hypoglycemia: Pathogenesis, diagnosis and treatment MD Kogut	Current Problems in Pediatrics	1974
An alteration in glucose metabolism associated with a defect in ketone body metabolism JT Tildon	Proceedings of the National Academy of Sciences	1973
Subcellular distribution of methylmalonyl CoA carbonylmutase in human liver extracts G Morrow, JD Brodie, A Strimpler, LA Barness	Biochemical Medicine	1973

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