Zobrazeno 1 - 10
of 228
pro vyhledávání: '"Holocarboxylase Synthetase Deficiency"'
Autor:
Kim SW; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Lee HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Choi N; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Kim EK; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Children's Hospital, Seoul, South Korea., Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Children's Hospital, Seoul, South Korea.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e70002.
Autor:
Nelson AT; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States., Jones PM; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States., Cao J; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address: Jing.Cao2@UTSouthwestern.edu.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jun 15; Vol. 560, pp. 119747. Date of Electronic Publication: 2024 May 22.
Autor:
Li KY; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Tang JP; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Jiang YL; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Yue SZ; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Zhou B; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Wen R; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China., Zhou ZT, Wei Z; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2023 Apr 15; Vol. 25 (4), pp. 401-407.
Autor:
Ling S; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Qiu W; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Zhang H; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Liang L; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Lu D; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Chen T; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Zhan X; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Wang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Gu X; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China., Han L; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China. hanlianshu@xinhuamed.com.cn.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 08; Vol. 18 (1), pp. 48. Date of Electronic Publication: 2023 Mar 08.
Autor:
Liu H; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Wei R; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yang Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Zhang Z; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yang Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Tang J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Chen J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Zhang J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Gu Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yao Z; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Publikováno v:
The Journal of dermatology [J Dermatol] 2023 Mar; Vol. 50 (3), pp. 401-406. Date of Electronic Publication: 2022 Nov 07.
Autor:
Karachaliou CE; Immunopeptide Chemistry Lab, Institute of Nuclear & Radiological Sciences & Technology, Energy & Safety, National Centre for Scientific Research 'Demokritos', P.O. Box 60037, 153 10 Agia Paraskevi, Greece., Livaniou E; Immunopeptide Chemistry Lab, Institute of Nuclear & Radiological Sciences & Technology, Energy & Safety, National Centre for Scientific Research 'Demokritos', P.O. Box 60037, 153 10 Agia Paraskevi, Greece.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jun 14; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 14.
Autor:
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Publikováno v:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences [Zhejiang Da Xue Xue Bao Yi Xue Ban] 2022 Feb 25; Vol. 51 (1), pp. 129-135.
Autor:
Sadri M; Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, United States of America., Wang H; Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, United States of America., Kuroishi T; Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, United States of America., Li Y; Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, United States of America., Zempleni J; Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, Nebraska, United States of America.
Publikováno v:
PloS one [PLoS One] 2022 Apr 06; Vol. 17 (4), pp. e0265539. Date of Electronic Publication: 2022 Apr 06 (Print Publication: 2022).
Autor:
Xiong Z; Department of Pediatrics Intensive Care Unit, Chengdu Women's and Children's Central Hosptial, School of Medicine, University of Electronic Science and Technology of China, Chengdu, People's Republic of China., Zhang G, Luo X, Zhang N, Zheng J
Publikováno v:
Medicine [Medicine (Baltimore)] 2020 May; Vol. 99 (18), pp. e19964.
Autor:
Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Gannon J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Newell B; Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Nopper AJ; Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Jenkins J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Heese B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2021 May; Vol. 38 (3), pp. 655-658. Date of Electronic Publication: 2021 Apr 19.