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Journal of Inherited Metabolic Disease|January 6, 2010
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availabilityShanti Balasubramaniam, Frank Bowling, Kevin Carpenter, et al.
The Journal of Pediatrics|April 18, 2006
Rett syndrome in Australia: a review of the epidemiologyCrystal L Laurvick, Nicholas de Klerk, Carol Bower, et al.
The Journal of Pediatrics|June 27, 2018
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian PopulationKingsley Wong, Jenny Downs, Carolyn Ellaway, et al.
Scientific Reports|October 15, 2025
Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndromeAshley Hertzog, Adviye Ayper Tolun, Alexander D Wykes, et al.
Genes|August 26, 2023
Multidisciplinary Management of Rett Syndrome: Twenty Years' ExperienceSandra Vilvarajan, Madeleine McDonald, Lyndal Douglas, et al.
Human Mutation|August 6, 2019
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targetsRahul Krishnaraj, Florencia Haase, Bronte Coorey, et al.
Clinical Case Reports|January 2, 2020
Whole exome sequencing reveals a de novo missense variant in <i>EEF1A2</i> in a Rett syndrome-like patientSimranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, et al.
European Journal of Pediatrics|August 9, 2007
The diagnosis of autism in a female: could it be Rett syndrome?Deidra J Young, Ami Bebbington, Alison Anderson, et al.
JIMD Reports|July 14, 2021
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, AustraliaNoha Elserafy, Sue Thompson, Troy Dalkeith, et al.
Human Mutation|June 11, 2025
<i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic SpectrumElaine Zhang, Teresa Zhao, Tim Sikora, et al.
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