Associated Papers
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
AIP gene and familial isolated pituitary adenomas.
Ozfirat Z et al.
Molecular and Cellular Endocrinology, 2010
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