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Mingsheng Ma

Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital

1 Shuaifuyuan

Beijing, 100730

China

SCHOLARLY PAPERS

2

DOWNLOADS

84

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: A case report and review of the literature

Number of pages: 16 Posted: 16 Nov 2025
Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital and Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital
Downloads 46 (1,133,231)

Abstract:

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SEC61A1, autosomal dominant inheritance, tubulointerstitial kidney disease, renal failure, kidney cyst

2.

Rapid Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Method for the Simultaneous Determination of Three Characteristic Urinary Saccharide Metabolites in Patients with Glycogen Storage Diseases (Type Ib and II)

Number of pages: 26 Posted: 06 Aug 2023
Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Peking Union Medical College Hospital and Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) - Beijing Key Laboratory of Clinical Study on Anticancer Molecular Targeted Drugs
Downloads 38 (1,209,354)

Abstract:

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Glycogen storage disease, Saccharide metabolites, UPLC-MS/MS, Urine