المؤلفون: Dupré M; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Warne R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Shipman P; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Kava M; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia.; Department of Metabolic Medicine, Perth Children's Hospital, Perth, 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth, 6009, Australia., Ghia T; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia., Loughman L; Genetic Health Western Australia, King Edward Memorial Hospital, Perth, 6008, Australia., Lakshmanan R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.; UWA Medical School, Centre for Neuromuscular and Neurological Disorders (Perron Institute), Nedlands, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.

المصدر: Pediatric radiology [Pediatr Radiol] 2024 Sep; Vol. 54 (10), pp. 1758-1762. Date of Electronic Publication: 2024 Jul 27.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0365332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1998 (Electronic) Linking ISSN: 03010449 NLM ISO Abbreviation: Pediatr Radiol Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/diagnostic imaging , Leigh Disease*/genetics , Magnetic Resonance Imaging*/methods , Membrane Proteins*/genetics , Mitochondrial Proteins*/genetics, Humans ; Male ; Infant

المؤلفون: Dong Q; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yin X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Fan S; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Zhong S; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yang W; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Chen K; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Wang Q; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Ma X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China., Mahlatsi RL; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China., Lyu J; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, 310053, China., Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. fangh@wmu.edu.cn., Wang Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. yawang@wmu.edu.cn.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 21; Vol. 19 (1), pp. 305. Date of Electronic Publication: 2024 Aug 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Leigh Disease*/pathology , Leigh Disease*/metabolism , Oxidative Phosphorylation* , Mutation*/genetics, Humans ; Male ; Child, Preschool ; HEK293 Cells ; Membrane Potential, Mitochondrial ; Amino Acyl-tRNA Synthetases/genetics ; Amino Acyl-tRNA Synthetases/metabolism

عنوان ترانسليتريتد: m.8993T>G相关Leigh综合征合并低瓜氨酸血症患儿4例并文献复习.

المؤلفون: Li YX; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China., Wang DJ, Zhou MB; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China., Sun HX; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China., Hong SQ; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China., Jiang L; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China., Guo Y; Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China.

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2024 Sept 15; Vol. 26 (9), pp. 940-945.

نوع المنشور: Journal Article; Case Reports; Review; English Abstract

بيانات الدورية: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Mutation* , Citrulline*/blood, Humans ; Male ; Female ; Infant ; Child, Preschool ; Infant, Newborn ; Carnitine/analogs & derivatives ; Carnitine/blood ; Retrospective Studies

المؤلفون: Voges TS; Department of Biology, North Central College, Naperville, IL, USA.; Department of Physiology and Biophysics, University of Illinois, Chicago, Chicago, IL, USA., Lim EB; Department of Biology, North Central College, Naperville, IL, USA.; Department of Microbiology and Immunology, Loyola University of Chicago, Maywood, IL, USA., MacKenzie A; Department of Biology, North Central College, Naperville, IL, USA., Mudler K; Department of Biology, North Central College, Naperville, IL, USA., DeSouza R; Department of Biology, North Central College, Naperville, IL, USA., Onyejekwe NE; Department of Biology, North Central College, Naperville, IL, USA., Johnston SD; Department of Biology, North Central College, Naperville, IL, USA. sdjohnston@noctrl.edu.

المصدر: BMC research notes [BMC Res Notes] 2024 Aug 16; Vol. 17 (1), pp. 228. Date of Electronic Publication: 2024 Aug 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Electron Transport Complex IV*/genetics , Electron Transport Complex IV*/metabolism , Phenotype*, Humans ; Saccharomyces cerevisiae/genetics ; Genetic Variation ; Membrane Proteins ; Alkyl and Aryl Transferases

المؤلفون: Sasaki M; Course of Medicine for Children with Disabilities, Faculty of Medicine and Graduate School of Medical Sciences, Tottori University, Yonago, Japan., Okanishi T; Faculty of Medicine, Division of Child Neurology, Institute of Neurological Science, Tottori University, Yonago, Japan. Electronic address: t.okanishi@tottori-u.ac.jp., Matsuoka T; Division of Child Neurology and Child Psychiatry, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center and Children's Medical Center, Haebaru, Japan., Yoshimura A; Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Japan., Maruyama S; Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan., Shiohama T; Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan., Hoshino H; Department of Pediatrics, Toho University Medical Center Sakura Hospital, Chiba, Japan., Mori T; Department of Pediatrics, Graduate School of Medical Sciences, Tokushima University, Tokushima, Japan., Majima H; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Matsumoto H; Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan., Kobayashi S; Department of Pediatrics, Nagoya City University West Medical Center, Nagoya, Japan., Chiyonobu T; Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan., Matsushige T; Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan., Nakamura K; Department of Pediatrics, Yamagata University Hospital, Yamagata, Japan., Kubota K; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Tanaka R; Department of Pediatrics, Ibaraki Children's Hospital, Mito, Japan., Fujita T; Faculty of Medicine, Department of Pediatrics, Fukuoka University, Fukuoka, Japan., Enoki H; Department of Pediatrics, Kawasaki Medical School, Kurashiki, Japan., Suzuki Y; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan., Nakamura S; Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan., Fujimoto A; Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Maegaki Y; Faculty of Medicine, Division of Child Neurology, Institute of Neurological Science, Tottori University, Yonago, Japan.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 29-38. Date of Electronic Publication: 2024 May 15.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/complications , Spasms, Infantile*/drug therapy , Spasms, Infantile*/complications , Diet, Ketogenic* , Anticonvulsants*/therapeutic use , Adrenocorticotropic Hormone*/administration & dosage, Humans ; Infant ; Retrospective Studies ; Female ; Male ; Japan ; Child, Preschool ; Infant, Newborn

المؤلفون: Lo CH; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Liu Z; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Chen S; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Lin F; Department of Medicine, Stanford University, Palo Alto, California, USA., Berneshawi AR; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Yu CQ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Koo EB; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Kowal TJ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Ning K; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Hu Y; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Wang WJ; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liao YJ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Sun Y; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA.; Palo Alto Veterans Administration, Palo Alto, California, USA.; Stanford Maternal and Child Health Research Institute and.; BioX, Stanford University School of Medicine, Palo Alto, California, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jul 01; Vol. 134 (13). Date of Electronic Publication: 2024 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish*/metabolism , Zebrafish*/genetics , Leigh Disease*/genetics , Leigh Disease*/metabolism , Leigh Disease*/pathology , Cilia*/metabolism , Cilia*/pathology , Cilia*/genetics , Mitochondria*/metabolism , Mitochondria*/pathology , Mitochondria*/genetics , Kidney Diseases, Cystic*/genetics , Kidney Diseases, Cystic*/metabolism , Kidney Diseases, Cystic*/pathology, Humans ; Animals ; Electron Transport Complex I/metabolism ; Electron Transport Complex I/genetics ; Armadillo Domain Proteins/metabolism ; Armadillo Domain Proteins/genetics ; Retina/metabolism ; Retina/pathology ; Retina/abnormalities ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Eye Abnormalities/metabolism ; Mice ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/pathology ; Cerebellum/metabolism ; Cerebellum/pathology ; Cerebellum/abnormalities ; Mitochondrial Proteins/metabolism ; Mitochondrial Proteins/genetics ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; Male

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Newstead SM; HeatSync Biochemistry Laboratory, Mesa, AZ, USA., Finsterer J; Neurology and Neurophysiology Center, Vienna, Austria.

المصدر: Annals of African medicine [Ann Afr Med] 2024 Jul 01; Vol. 23 (3), pp. 512-513. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 101231417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0975-5764 (Electronic) Linking ISSN: 09755764 NLM ISO Abbreviation: Ann Afr Med Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/complications , Leigh Disease*/diagnosis, Humans ; Female ; Adult ; Hyperkinesis/etiology ; Electron Transport Complex I/deficiency ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation

المؤلفون: Galosi S; Department of Human Neuroscience, Sapienza University, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Commone A; Department of Human Neuroscience, Sapienza University, Rome, Italy., Calligari P; Department of Chemical Science and Technologies, University of Rome Tor Vergata, Rome, Italy., Caputo V; Department of Experimental Medicine, Sapienza University, Rome, Italy., Nardecchia F; Department of Human Neuroscience, Sapienza University, Rome, Italy., Carducci C; Department of Experimental Medicine, Sapienza University, Rome, Italy., van den Heuvel LP; Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Rodenburg RJ; Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Leuzzi V; Department of Human Neuroscience, Sapienza University, Rome, Italy.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1225-1231. Date of Electronic Publication: 2024 Apr 30.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Ketoglutarate Dehydrogenase Complex*/genetics , Ketoglutarate Dehydrogenase Complex*/deficiency, Humans ; Male ; Mitochondrial Proteins/genetics ; Child, Preschool ; Infant

المؤلفون: Narra RK; Department of Radiodiagnosis, Katuri Medical College, Guntur, India., Vemuri R; Department of Neurology, Katuri Medical College, Guntur, India.

المصدر: The American journal of case reports [Am J Case Rep] 2024 Jul 31; Vol. 25, pp. e944514. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Membrane Proteins*/genetics , Mitochondrial Proteins*/genetics , Magnetic Resonance Imaging* , Mutation*, Humans ; Male ; Child, Preschool ; Brain/diagnostic imaging ; Brain/pathology

المؤلفون: Bernhardt I; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand. Electronic address: IBernhardt@adhb.govt.nz., Frajman LE; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia., Ryder B; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand., Andersen E; Wellington Regional Hospital, Te Whatu Ora Health New Zealand, Wellington, New Zealand., Wilson C; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand., McKeown C; Genetic Health Service New Zealand, Central Hub, Te Whatu Ora Health New Zealand, Wellington, New Zealand., Anderson T; New Zealand Brain Research Institute and Department of Medicine, University of Otago, Christchurch, New Zealand., Coman D; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, School of Medicine, University of Queensland, Australia., Vincent AL; Eye Department, Greenlane Clinical Centre, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Health and Medical Science, University of Auckland, New Zealand., Buchanan C; Neurology Department, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand,Auckland, New Zealand., Roxburgh R; Neurology Department, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand,Auckland, New Zealand., Pitt J; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., De Hora M; Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand., Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Wilson F; Department of Paediatric Radiology, Starship Children's Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand., Drake KM; Genetics, Canterbury Health Laboratories, Waitaha Canterbury, Te Whatu Ora Health New Zealand, Christchurch, New Zealand., Leask M; Department of Physiology, School of Biomedical Sciences, University of Otago, New Zealand; Department of Immunology and Rheumatology, School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA., Yardley AM; Eye Department, Capital, Coast and Hutt Valley, Te Whatu Ora Health New Zealand, Wellington, New Zealand., Merriman T; Department of Immunology and Rheumatology, School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA; Department of Microbiology and Immunology, University of Otago, Dunedin, New Zealand., Robertson S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, New Zealand., Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Glamuzina E; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108508. Date of Electronic Publication: 2024 May 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Enoyl-CoA Hydratase*/genetics , Enoyl-CoA Hydratase*/deficiency , Leigh Disease*/genetics, Humans ; Male ; Female ; Infant ; Australia/epidemiology ; Child, Preschool ; Child ; Mutation ; New Zealand ; Alleles ; Gene Frequency