Search Results

Analysis of clinical audiological characteristics in children with Williams syndrome in China.

• Authors : Li, Fangfang¹ (AUTHOR); Xu, Bin² (AUTHOR); Shen, Jiyang¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/20/2025, Vol. 20 Issue 1, p1-11. 11p.

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Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study

• Authors : Santoro, M; Barisic, I; Coi, A

• Source: ORPHANET JOURNAL OF RARE DISEASES. 20(1)

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Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6–18 years

• Authors : Mei Xue; Ming Shen; Shunan Wang

Subjects: Psycho-behavioral problems; Research; Phenylketonuria

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-14 (2025)

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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children

• Authors : Chaolong Xu; Dan Zhao; Xin Duan

Subjects: Male; China; Mitochondrial Diseases

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-9 (2025)

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European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep ((D)EE-SWAS).

• Authors : Canbay, Dilan¹ (AUTHOR); Jansen, Floor E.² (AUTHOR); Schönberger, Jan¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/29/2025, Vol. 20 Issue 1, p1-8. 8p.

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Evaluation of the benefits of adapted physical activity in children and adolescents with osteogenesis imperfecta: the MOVE-OI trial.

• Authors : Al Arab, Hayssam¹ (AUTHOR) ; Flammier, Sacha^1,2,3 (AUTHOR); Espitalier, Morgane¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/12/2025, Vol. 20 Issue 1, p1-9. 9p.

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Experiences of symptom burden among young children born with esophageal atresia–tracheoesophageal fistula: a US focus group study.

• Authors : Dellenmark-Blom, Michaela^1,2 (AUTHOR) ; Bennett, John³ (AUTHOR); Micalizzi, Rosella³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/18/2025, Vol. 20 Issue 1, p1-17. 17p.

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Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years.

• Authors : Hermann, Julia¹ (AUTHOR); Raak, Christa K.^1,2 (AUTHOR) ; Ostermann, Thomas³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/17/2025, Vol. 20 Issue 1, p1-18. 18p.

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Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.

• Authors : Yan, Yue¹ (AUTHOR); Zhu, Danhui¹ (AUTHOR); Ma, Kai² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/4/2025, Vol. 20 Issue 1, p1-9. 9p.

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My A–T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia.

• Authors : Khan, Munira^1,2 (AUTHOR); Cassidy, Elizabeth³ (AUTHOR); Parkin, Tracey¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/4/2025, Vol. 20 Issue 1, p1-11. 11p.

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