Search Results

Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study.

• Authors : Lin, Hui-ling¹ (AUTHOR); Zheng, Qing-qing¹ (AUTHOR); Huang, Ru-lin¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/23/2024, Vol. 19 Issue 1, p1-9. 9p.

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Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

• Authors : Shen, Qian; Liu, Jialu; Chen, Jing

Subjects: CHILDREN'S hospitals; ANGIOKERATOMA corporis diffusum; JUVENILE diseasesCHINAFUDAN University (Shanghai, China)

• Source: Orphanet Journal of Rare Diseases; 12/14/2021, Vol. 16 Issue 1, p1-9, 9p

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The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.

• Authors : Westerheim, Ingunn¹ (AUTHOR); Hart, Tracy² (AUTHOR); van Welzenis, Taco¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/21/2024, Vol. 19 Issue 1, p1-21. 21p.

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Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature.

• Authors : Reisi, Nahid; Raeissi, Pouran; Harati Khalilabad, Touraj

Subjects: LANGERHANS-cell histiocytosis; DENDRITIC cells; BONESASIA

• Source: Orphanet Journal of Rare Diseases; 1/2/2021, Vol. 16 Issue 1, p1-13, 13p

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Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development.

• Authors : Connor-Ahmad, Siobhan¹ (AUTHOR) ; Tjeertes, Jorrit² (AUTHOR); Chladek, Michael³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 6/22/2023, Vol. 18 Issue 1, p1-13. 13p.

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Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

• Authors : Komarow, Hirsh D.; Sokolic, Robert; Hershfield, Michael S.

Subjects: AIRWAY (Anatomy); ADENOSINE deaminase deficiency; CHILD patients

• Source: Orphanet Journal of Rare Diseases; 12/18/2015, Vol. 10 Issue 1, p1-5, 5p

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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

• Authors : Zurynski, Yvonne; Deverell, Marie; Dalkeith, Troy

Subjects: RARE diseases; CHILDREN; PEDIATRIC diagnosisAUSTRALIA

• Source: Orphanet Journal of Rare Diseases; 4/11/2017, Vol. 12, p1-9, 9p

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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

• Authors : Zheng, Wanqi¹ (AUTHOR); Duan, Ying¹ (AUTHOR); Xia, Yu¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/26/2023, Vol. 18 Issue 1, p1-14. 14p.

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The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

• Authors : Ingunn Westerheim; Tracy Hart; Taco van Welzenis

Subjects: Osteogenesis imperfecta; Patient reported outcomes; Survey

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-21 (2024)

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Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development

• Authors : Siobhan Connor-Ahmad; Jorrit Tjeertes; Michael Chladek

Subjects: Angelman syndrome; Caregivers; Children

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

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