عنوان ترانسليتريتد: 基于质谱技术的早产儿视网膜病血代谢产物的初步研究.

المؤلفون: Yang QP; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China., Li ST; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China., Hao H; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China., Gu X; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China., Shi CC, Xiao X; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China., Cai Y; Department of Pediatrics, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China.

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2023 Feb 15; Vol. 25 (2), pp. 140-146.

نوع المنشور: 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: Tandem Mass Spectrometry* , Retinopathy of Prematurity*/diagnosis, Infant, Newborn ; Infant ; Humans ; Infant, Premature ; Chromatography, Liquid ; Glutamic Acid ; Ornithine

المؤلفون: Chen M; Department of Pediatrics, Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou 510655, China. haohu@mail.sysu.edu.cn., Li ST, Cai Y, Xiao X, Shi CC, Hao H

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2020 Oct; Vol. 22 (10), pp. 1114-1118.

نوع المنشور: Case Reports; Journal Article; Review

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: Abnormalities, Multiple* , Intellectual Disability*, DNA (Cytosine-5-)-Methyltransferases/*genetics, DNA Methyltransferase 3A ; Female ; Heterozygote ; Humans ; Infant ; Mutation

المؤلفون: Ma F; Laboratory of Inborn Metabolism, Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou 510655, China. freehaotiger@126.com., Shi CC, Liang PP, Li ST, Gu X, Xiao X, Hao H

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2019 Aug; Vol. 21 (8), pp. 824-829.

نوع المنشور: 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: CRISPR-Cas Systems*, Amino Acid Metabolism, Inborn Errors ; Animals ; Carrier Proteins ; Heterozygote ; Mice ; Mutation ; Oxidoreductases

SCR Disease Name: Methylmalonic acidemia

المؤلفون: Hao H; Department of Pediatrics, First Hospital Affiliated to Jinan University, Guangzhou 510632, China., Song YZ, Xiao X, Zhang RJ, Liu ZH

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2006 Oct; Vol. 8 (5), pp. 435-6.

نوع المنشور: Case Reports; 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: Brain/*abnormalities , Diseases in Twins/*genetics , Eye Diseases/*genetics , Muscular Dystrophies/*genetics, Diseases in Twins/diagnosis ; Female ; Humans ; Infant, Newborn ; Syndrome

المؤلفون: Deng JY; Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China., Song YZ, Liu GS, Hao H

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2006 Aug; Vol. 8 (4), pp. 350-1.

نوع المنشور: Case Reports; 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: Mucopolysaccharidosis II/*genetics, Child, Preschool ; Humans ; Male ; Mucopolysaccharidosis II/diagnosis ; Mucopolysaccharidosis II/therapy ; Siblings

المؤلفون: Song YZ; Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China. songyuanzong@tom.com, Hao H, Ushikai M, Liu GS, Xiao X, Saheki T, Kobayashi K, Wang ZN

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2006 Apr; Vol. 8 (2), pp. 125-8.

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

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: Calcium-Binding Proteins/*deficiency , Cholestasis, Intrahepatic/*etiology , Metabolism, Inborn Errors/*etiology , Organic Anion Transporters/*deficiency, Cholestasis, Intrahepatic/diagnosis ; Cholestasis, Intrahepatic/therapy ; Humans ; Infant ; Male ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/therapy