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Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

• Authors : Hermida-Ameijeiras A; Division of Internal Medicine, University of Santiago de Compostela. UETeM- Molecular Pathology Group, IDIS-CIMUS, MetabERN, Santiago de Compostela, Spain.; Blasco-Alonso J

Subjects: Wolman Disease*/Wolman Disease*/Wolman Disease*/therapy ; Transition to Adult Care*; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 02; Vol. 20 (1), pp. 337. Date of Electronic Publication: 2025 Jul 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen – a multicenter observational study.

• Authors : Wurster, Claudia D.^1,2 (AUTHOR) ; Stolte, Benjamin³ (AUTHOR); Kessler, Tobias^4,5 (AUTHOR)

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

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Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey

• Authors : Rossi, Alice; Pancaldi, Chiara; Regazzi, Maria Giulia

Subjects: Adult; Male; Transition to Adult Care

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-11 (2025)

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Comprehensive insights into pathogenesis, diagnosis, treatment, and prognosis in adult autoimmune enteropathy

• Authors : Muhan Li; Tianming Xu; Gechong Ruan

Subjects: Treatment; Adult; Clinical presentation

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

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Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases.

• Authors : Tosi LL; Division of Orthopaedic Surgery & Sports Medicine, Children's National Hospital, 111 Michigan Ave NW, Washington, 20010, DC, USA. .; Hart TS

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/therapy ; Transition to Adult Care*; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Oct 02; Vol. 20 (1), pp. 498. Date of Electronic Publication: 2025 Oct 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Are adult cystic fibrosis patients satisfied with medication treatment?

• Authors : Esen Deniz Akman; Nadir Yalçın; Oğuz Karcıoğlu

Subjects: Adult; Male; Treatment satisfaction

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

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Physical fitness and level of physical activity in adult patients with Marfan syndrome.

• Authors : Nordeborn, Madelene¹ (AUTHOR) ; Brandt, Nanna¹ (AUTHOR) ; Cider, Åsa^1,2,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/7/2025, Vol. 20 Issue 1, p1-13. 13p.

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Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review

• Authors : Songqi Wang; Lei Sun; Jing Hu

Subjects: Adult; Fracture Healing; Research

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

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How does overweight affect bone mineral density and oral health in adult hypophosphatasia?– A single center experience

• Authors : Florian Dudde; Dominik Fildebrandt; Karin Petz

Subjects: Male; Adult; Oral health

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

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Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study

• Authors : Dietrich Stoevesandt; Axel Schlitt; Philipp Röntgen

Subjects: Male; Adult; ddc:610

• Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-7 (2025)

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