المؤلفون: 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.

المصدر: 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.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Carnitine*/analogs & derivatives , Carnitine*/blood , Carnitine*/urine , Holocarboxylase Synthetase Deficiency*/diagnosis , Holocarboxylase Synthetase Deficiency*/genetics, Humans ; Female ; Infant, Newborn ; Infant

المؤلفون: 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.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 14; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Biotin*/metabolism , Homeostasis* , Biotinidase Deficiency*/metabolism , Biotinidase Deficiency*/diagnosis , Biotinidase Deficiency*/genetics , Biotinidase Deficiency*/drug therapy , Biotinidase*/metabolism , Biotinidase*/genetics, Humans ; Holocarboxylase Synthetase Deficiency/metabolism ; Carbon-Nitrogen Ligases/metabolism ; Carbon-Nitrogen Ligases/genetics ; Animals ; Ataxia/metabolism ; Ataxia/genetics ; Basal Ganglia Diseases

SCR Disease Name: Basal ganglia disease, biotin-responsive

عنوان ترانسليتريتد: 罕见病研究： HLCS 基因突变致全羧化酶合成酶缺乏症.

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Case Reports; English Abstract; Journal Article

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: Holocarboxylase Synthetase Deficiency*/genetics , Holocarboxylase Synthetase Deficiency*/diagnosis , Holocarboxylase Synthetase Deficiency*/drug therapy, Humans ; Male ; Biotin/genetics ; Biotin/therapeutic use ; Homozygote ; Mutation ; Rare Diseases/drug therapy ; Infant

المؤلفون: 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.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 08; Vol. 18 (1), pp. 48. Date of Electronic Publication: 2023 Mar 08.

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

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: Holocarboxylase Synthetase Deficiency*/genetics , Holocarboxylase Synthetase Deficiency*/diagnosis , Holocarboxylase Synthetase Deficiency*/drug therapy, Humans ; Biotin/therapeutic use ; East Asian People ; Retrospective Studies ; Asian People/genetics

المؤلفون: 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.

المصدر: The Journal of dermatology [J Dermatol] 2023 Mar; Vol. 50 (3), pp. 401-406. Date of Electronic Publication: 2022 Nov 07.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1346-8138 (Electronic) Linking ISSN: 03852407 NLM ISO Abbreviation: J Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Holocarboxylase Synthetase Deficiency* , Psoriasis*/complications , Psoriasis*/drug therapy , Dermatitis, Exfoliative*, Male ; Child ; Humans ; Biotin/therapeutic use

المؤلفون: 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.

المصدر: PloS one [PLoS One] 2022 Apr 06; Vol. 17 (4), pp. e0265539. Date of Electronic Publication: 2022 Apr 06 (Print Publication: 2022).

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Carbon-Nitrogen Ligases*/genetics , Carbon-Nitrogen Ligases*/metabolism , Genes, Lethal* , Holocarboxylase Synthetase Deficiency*/drug therapy , Holocarboxylase Synthetase Deficiency*/genetics, Animals ; Biotin/metabolism ; Biotinylation ; Humans ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Tamoxifen

المؤلفون: 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

المصدر: 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.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Zhejiang da xue xue bao bian ji bu Country of Publication: China NLM ID: 100927946 Publication Model: Print Cited Medium: Print ISSN: 1008-9292 (Print) Linking ISSN: 10089292 NLM ISO Abbreviation: Zhejiang Da Xue Xue Bao Yi Xue Ban Subsets: MEDLINE

مواضيع طبية MeSH: Biotinidase Deficiency*/drug therapy , Biotinidase Deficiency*/therapy , Carbon-Nitrogen Ligases*/genetics , Carbon-Nitrogen Ligases*/metabolism , Holocarboxylase Synthetase Deficiency*/drug therapy , Holocarboxylase Synthetase Deficiency*/genetics , Multiple Carboxylase Deficiency*/drug therapy, Biotin/metabolism ; Biotin/therapeutic use ; Consensus ; Humans ; Infant, Newborn ; Neonatal Screening

المؤلفون: 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.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2021 May; Vol. 38 (3), pp. 655-658. Date of Electronic Publication: 2021 Apr 19.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Holocarboxylase Synthetase Deficiency* , Ichthyosis*/diagnosis, Biotin ; Delayed Diagnosis ; Humans ; Seizures

المؤلفون: Wu HR; Changhua Christian Medical Foundation Changhua Christian Hospital, Division of Pediatric Genetics and Metabolism, Changhua, Taiwan., Chen KJ; Changhua Christian Medical Foundation Changhua Christian Hospital, Division of Pediatric Genetics and Metabolism, Changhua, Taiwan., Hsiao HP; Department of Pediatrics, Kaohsiung Medical University Chung Ho Memorial Hospital, Kaohsiung, Taiwan., Chao MC; Changhua Christian Medical Foundation Changhua Christian Hospital, Division of Pediatric Genetics and Metabolism, Changhua, Taiwan.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Nov 26; Vol. 33 (11), pp. 1481-1486.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Acidosis/*diagnosis , Carbon-Nitrogen Ligases/*genetics , Holocarboxylase Synthetase Deficiency/*diagnosis , Hypoglycemia/*diagnosis, Acidosis/drug therapy ; Acidosis/genetics ; Acidosis/metabolism ; Biotin/therapeutic use ; Child ; Female ; Glucose/metabolism ; Holocarboxylase Synthetase Deficiency/complications ; Holocarboxylase Synthetase Deficiency/drug therapy ; Holocarboxylase Synthetase Deficiency/genetics ; Homeostasis ; Humans ; Hypoglycemia/drug therapy ; Hypoglycemia/genetics ; Hypoglycemia/metabolism ; Infant ; Mutation, Missense ; Prognosis ; Taiwan

المؤلفون: 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

المصدر: Medicine [Medicine (Baltimore)] 2020 May; Vol. 99 (18), pp. e19964.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Holocarboxylase Synthetase Deficiency/*diagnosis , Holocarboxylase Synthetase Deficiency/*physiopathology, Acidosis/etiology ; Biotin/therapeutic use ; China ; Dyspnea/etiology ; Female ; Holocarboxylase Synthetase Deficiency/complications ; Holocarboxylase Synthetase Deficiency/drug therapy ; Humans ; Hyperglycemia/etiology ; Infant ; Male