Chiju Yang
12 Gongxiao Road
Jining, China
Jining, China
Last Updated: 09/26/2026
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Found 11 publications
Hydroxocobalamin monotherapy in patients with cblC deficiency: Biochemical analysis and clinical observations.
Journal: Molecular genetics and metabolism
Published: February 12, 2026
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Journal: Orphanet journal of rare diseases
Published: April 22, 2025
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Journal: Molecular genetics & genomic medicine
Published: March 03, 2021
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
Journal: Orphanet journal of rare diseases
Published: December 11, 2020
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Journal: Orphanet journal of rare diseases
Published: May 03, 2020
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 06, 2019
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal: Journal of inherited metabolic disease
Published: September 29, 2019
Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Journal: Frontiers in genetics
Published: May 26, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026