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Orphanet Journal of Rare Diseases - ResearchHub

Journal

Orphanet Journal of Rare Diseases

1750-1172 · Springer Science and Business Media LLC

19 verified public works

Browse all journals →

Hyperphagia in Prader–Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan

2026 · 0 citations

From transfer to receipt: transition in neuromuscular disorders in the era of disease-modifying therapy

2026 · 0 citations

Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots

2026 · 0 citations

Cortical gyrification abnormalities are coupled with white matter microstructural disruption in dentatorubral-pallidoluysian atrophy

2026 · 0 citations

Clinical features and management of a series of duodenal duplication cysts in children

2026 · 0 citations

Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research

2026 · 0 citations

Expert Delphi consensus on the diagnosis and management of Hypophosphatasia in the Gulf Cooperation Council region

2026 · 0 citations

Unlocking MENA’s potential in rare-disease precision medicine

2026 · 0 citations

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience

2026 · 0 citations

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study

2026 · 0 citations

Co-development of a genetic care pathway for ALS: real-world perspectives from the North of England

2026 · 0 citations

Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions

2026 · 0 citations

Survival and prognosis of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumours: a systematic review and meta-analysis

2026 · 0 citations

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II

2026 · 0 citations

Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease

2026 · 0 citations

A review of PI3K/AKT/mTOR inhibitors from traditional Chinese medicine: potential and perspective for activated phosphoinositide 3-kinase δ syndrome

2026 · 0 citations

persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis

2026 · 0 citations

Psychiatric manifestations in Neuronal ceroid lipofuscinoses

2026 · 0 citations

SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease

2026 · 0 citations

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