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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Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

• Authors : López-Rodríguez, Mónica; Torralba-Cabeza, Miguel Angel; de Pedro, Iván Pérez

Subjects: GLYCOGEN storage disease type II; MEDICAL screening; INTERNAL medicineSPAIN

• Source: Orphanet Journal of Rare Diseases; 8/31/2023, Vol. 18 Issue 1, p1-8, 8p

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Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.

• Authors : Zhang, Guofeng; Liu, Jinli; Wang, Yushuo

Subjects: SKIN diseases; PROTEINS; LUNG diseases

• Source: Orphanet Journal of Rare Diseases; 5/16/2022, Vol. 17 Issue 1, p1-9, 9p

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Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

• Authors : Ezgu, Fatih; Alpsoy, Erkan; Bicik Bahcebasi, Zerrin

Subjects: ANGIOKERATOMA corporis diffusum; CHILD patients; MEDICAL personnelTURKEY

• Source: Orphanet Journal of Rare Diseases; 3/2/2022, Vol. 17 Issue 1, p1-27, 27p

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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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Quantification of Proteus syndrome-associated lung disease.

• Authors : Ours, Christopher A.¹ (AUTHOR) ; Buser, Anna¹ (AUTHOR); Hodges, Mia B.¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/6/2024, Vol. 19 Issue 1, p1-10. 10p.

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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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Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

• Authors : Kuiper, Gé-Ann; Meijer, Olga L. M.; Langereis, Eveline J.

Subjects: MUCOPOLYSACCHARIDOSIS I; SANFILIPPO syndrome; PHENOTYPES

• Source: Orphanet Journal of Rare Diseases; 1/8/2018, Vol. 13, p1-N.PAG, 13p

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Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.

• Authors : Li, Jing-Wen¹ (AUTHOR); Mao, Shao-Jia¹ (AUTHOR); Chao, Yun-Qi¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/29/2024, Vol. 19 Issue 1, p1-15. 15p.

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