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1
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations
Published 2023-07-01“…Orphanet Journal of Rare Diseases…”
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2
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Published 2023-06-01“…Orphanet Journal of Rare Diseases…”
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3
A conceptual framework to develop a patient-reported experience questionnaire on the cystic fibrosis journey in France: the ExPaParM collaborative study
Published 2023-02-01“…Orphanet Journal of Rare Diseases…”
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4
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
Published 2024-04-01“…Orphanet Journal of Rare Diseases…”
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5
Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus
Published 2023-02-01“…Orphanet Journal of Rare Diseases…”
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6
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience
Published 2023-10-01“…Orphanet Journal of Rare Diseases…”
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7
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
Published 2023-03-01“…Orphanet Journal of Rare Diseases…”
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8
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyo...
Published 2024-04-01“…Orphanet Journal of Rare Diseases…”
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9
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
Published 2023-10-01“…Orphanet Journal of Rare Diseases…”
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10
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
Published 2023-11-01“…Orphanet Journal of Rare Diseases…”
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11
Microbiome insights into pediatric familial adenomatous polyposis
Published 2022-11-01“…Orphanet Journal of Rare Diseases…”
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12
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
Published 2023-07-01“…Orphanet Journal of Rare Diseases…”
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13
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Published 2024-03-01“…Orphanet Journal of Rare Diseases…”
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14
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Published 2024-01-01“…Orphanet Journal of Rare Diseases…”
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15
Rare disease curative care expenditure-financing scheme-health provider–beneficiary group analysis: an empirical study in Sichuan Province, China
Published 2022-10-01“…Orphanet Journal of Rare Diseases…”
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16
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
Published 2023-06-01“…Orphanet Journal of Rare Diseases…”
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17
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
Published 2023-03-01“…Orphanet Journal of Rare Diseases…”
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18
Comprehensive analysis of autophagy-related gene expression profiles identified five gene biomarkers associated with immune infiltration and advanced plaques in carotid atheroscler...
Published 2023-03-01“…Orphanet Journal of Rare Diseases…”
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19
Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients
Published 2023-05-01“…Orphanet Journal of Rare Diseases…”
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20
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
Published 2023-10-01“…Orphanet Journal of Rare Diseases…”
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