JinQing Song

JinQing Song

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JinQing Song

JinQing Song

Publications by authors named "JinQing Song"

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24Publications

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Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.

Clin Chim Acta 2019 Nov 20;498:116-121. Epub 2019 Aug 20.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2019.08.019DOI Listing
November 2019

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.

Eur J Med Genet 2019 Sep 25;62(9):103542. Epub 2018 Sep 25.

Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183034
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http://dx.doi.org/10.1016/j.ejmg.2018.09.009DOI Listing
September 2019

Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.

Kidney Blood Press Res 2019 9;44(4):743-753. Epub 2019 Aug 9.

Department of Pediatrics, Peking University First Hospital, Beijing, China,

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http://dx.doi.org/10.1159/000501458DOI Listing
August 2019

Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.

Pediatr Int 2019 Jun 14;61(6):551-557. Epub 2019 Jun 14.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

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http://dx.doi.org/10.1111/ped.13872DOI Listing
June 2019

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.

J Hum Genet 2019 Apr 16;64(4):305-312. Epub 2019 Jan 16.

Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.

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http://www.nature.com/articles/s10038-018-0557-1
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http://dx.doi.org/10.1038/s10038-018-0557-1DOI Listing
April 2019

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.

Eur J Med Genet 2017 Dec 14;60(12):685-689. Epub 2017 Sep 14.

Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.09.003DOI Listing
December 2017

Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

Eur J Med Genet 2016 Apr 4;59(4):263-8. Epub 2016 Feb 4.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.012DOI Listing
April 2016

Corrigendum to succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses [Gene 574(2015) 41-47].

Gene 2016 04 15;580(2):184. Epub 2016 Jan 15.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.12.062DOI Listing
April 2016

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

Brain Dev 2016 Jan 28;38(1):61-7. Epub 2015 May 28.

Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.05.002DOI Listing
January 2016

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Gene 2015 Dec 26;574(1):41-7. Epub 2015 Jul 26.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.07.078DOI Listing
December 2015

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.

Brain Dev 2015 Nov 4;37(10):952-9. Epub 2015 Apr 4.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.03.005DOI Listing
November 2015

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Eur J Med Genet 2015 Nov 8;58(11):617-23. Epub 2015 Oct 8.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.10.002DOI Listing
November 2015

First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.

Brain Dev 2015 Mar 25;37(3):286-91. Epub 2014 Jun 25.

Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.06.007DOI Listing
March 2015

Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

Eur J Med Genet 2015 Mar 31;58(3):134-9. Epub 2015 Jan 31.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.01.005DOI Listing
March 2015

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Brain Dev 2014 Oct 9;36(9):813-22. Epub 2013 Dec 9.

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.11.006DOI Listing
October 2014

[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Zhonghua Er Ke Za Zhi 2014 Jun;52(6):415-9

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Email:

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June 2014

[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].

Zhejiang Da Xue Xue Bao Yi Xue Ban 2013 Jul;42(4):403-10

Department of Pediatrics, Peking University First Hospital, Beijing 100034.

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July 2013

Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy.

J Pediatr Endocrinol Metab 2012 ;25(11-12):1103-9

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

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http://dx.doi.org/10.1515/jpem-2012-0167DOI Listing
March 2013

Outcome of organic acidurias in China.

Ann Acad Med Singapore 2008 Dec;37(12 Suppl):120-3

Department of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, China.

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December 2008

Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.

J Child Neurol 2006 Dec;21(12):1020-4

Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China.

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http://dx.doi.org/10.1177/7010.2006.00231DOI Listing
December 2006

Acute metabolic crisis induced by vaccination in seven Chinese patients.

Pediatr Neurol 2006 Aug;35(2):114-8

Department of Pediatrics, Peking University First Hospital, Beijing, China.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.12.004DOI Listing
August 2006