Associated Papers
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 2022
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L et al.
Clinical Genetics, 2017
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
Charfeddine C et al.
Molecular Genetics and Metabolism, 2006
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
Hühn R et al.
Human Genetics, 1998
Richner-Hanhart syndrome detected by expanded newborn screening.
Meissner T et al.
Pediatric Dermatology, 0
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.
Culic V et al.
European Journal of Medical Genetics, 0
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