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Spine|December 19, 2015
The Natural History of Scoliosis in Females With Rett SyndromeJennepher Downs, Ian Torode, Kingsley Wong, et al.
Archives of Disease in Childhood|January 20, 2025
'Fighting every day': exploring caregiver quality of life and perspectives on healthcare services for children with dementia - a cross-sectional, mixed-methods studyJason Djafar, Suzanne Nevin, Nicholas Smith, et al.
Molecular Genetics and Metabolism|January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in childrenLisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
Orphanet Journal of Rare Diseases|October 31, 2025
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)Karolina M Stepien, Barbara K Burton, Michael B Bober, et al.
Pediatric Neurology|October 8, 2023
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian CentersJason V Djafar, Nicholas J Smith, Alexandra M Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyKathryn L Berrier, Zoheb B Kazi, Sean N Prater, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Molecular Genetics and Metabolism|September 10, 2022
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfaJohn J Mitchell, Barbara K Burton, Michael B Bober, et al.
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