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Screening of gene detection of monogenic inherited disorder in an infertile population in Henan Province: an autosomal recessive disorder carried by maple syrup urine disease
Affiliations- Department of Reproductive Medicine, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China
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Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
monogenic inherited disorder; gene detection; maple syrup urine disease; infertile population; Henan Province
About this articleTitle
Screening of gene detection of monogenic inherited disorder in an infertile population in Henan Province: an autosomal recessive disorder carried by maple syrup urine disease
Journal
Issue
Article type
Clinical vignette
Pages
165-166
Published online
2022-01-31
Page views
5340
Article views/downloads
350
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2022;73(1):165-166.
Keywords
monogenic inherited disorder
gene detection
maple syrup urine disease
infertile population
Henan Province
Authors
Xi-Ya Li
Dong-Mei Zhao
Guo Yu
Li Tan
References (3)- Menkes JH, Hurst PL, Craig JM. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics. 1954; 14(5): 462–467.
- Chapman KA, Gramer G, Viall S, et al. Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. Mol Genet Metab Rep. 2018; 15: 106–109.
- Li X, Yang Y, Gao Q, et al. Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. Metab Brain Dis. 2018; 33(3): 741–751.
