Vol 73, No 1 (2022)
Clinical vignette
Published online: 2022-01-31

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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

Xi-Ya Li1, Dong-Mei Zhao1, Guo Yu1, Li Tan1
Pubmed: 35119096
Endokrynol Pol 2022;73(1):165-166.

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References

  1. 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.
  2. 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.
  3. 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.