Works matching IS 1750-1172 AND VI 19 AND IP 1 AND DT 2024
Results: 425
Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03517-y
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- Article
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
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- Article
Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03474-6
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- Article
Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03399-0
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- Article
Two-year follow-up after drug desensitization in mucopolysaccharidosis.
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- 2024
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- Publication type:
- Letter
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03503-4
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- Article
When care hurts: parents' experiences of caring for a child with epidermolysis bullosa.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03502-5
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- Publication type:
- Article
A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03515-0
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- Article
Multisystem clinicopathologic and genetic analysis of MELAS.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03511-4
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- Article
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03469-3
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- Article
PHARC syndrome: an overview.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0
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- Article
Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome.
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- 2024
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- Publication type:
- Letter
Application of four pricing models for orphan medicines: a case study for lumasiran.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03446-w
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- Publication type:
- Article
Clinical efficacy of efgartigimod combined with intravenous methylprednisolone in the acute phase of neuromyelitis optica spectrum disorders.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03501-6
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- Publication type:
- Article
Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03493-3
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- Publication type:
- Article
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03507-0
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- Publication type:
- Article
Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03490-6
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- Publication type:
- Article
Multi-stakeholder sessions on major innovation topics in rare disease clinical trials.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03482-6
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- Publication type:
- Article
Quality of life after idiopathic multicentric Castleman disease in China: a cross-sectional, multi-center survey of patient reported outcome and caregiver reported outcome.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03450-0
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- Publication type:
- Article
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03449-7
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- Publication type:
- Article
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03448-8
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- Publication type:
- Article
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03430-4
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- Publication type:
- Article
Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03468-4
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- Article
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03497-z
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- Article
Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03492-4
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- Publication type:
- Article
Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03447-9
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- Article
Quality of care for people with differences of sex development (DSD) in Germany.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03467-5
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- Publication type:
- Article
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03473-7
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- Publication type:
- Article
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03409-1
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- Article
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products.
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- 2024
- Publication type:
- Abstract
Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation’s global rare pediatric disease network.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03459-5
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- Article
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03375-8
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- Article
Lung function in adult patients with osteogenesis imperfecta: a cohort study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03452-y
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- Publication type:
- Article
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03480-8
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- Publication type:
- Article
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03472-8
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- Publication type:
- Article
Nomogram for predicting pregnancy-related relapse of myasthenia gravis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03466-6
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- Article
Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03460-y
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- Publication type:
- Article
Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03481-7
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- Publication type:
- Article
The challenges of hepatic epithelioid hemangioendothelioma: the diagnosis and current treatments of a problematic tumor.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03354-z
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- Publication type:
- Article
Off-label use of medicines in South Africa: a review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03476-4
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- Publication type:
- Article
Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03461-x
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- Publication type:
- Article
The development for emerging biomarkers of lymphangioleiomyomatosis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03455-9
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- Publication type:
- Article
Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03377-6
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- Publication type:
- Article
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03454-w
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- Publication type:
- Article
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03453-x
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- Publication type:
- Article
Two cases of type I sialidosis and a literature review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03431-3
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- Publication type:
- Article
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03463-9
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- Publication type:
- Article
Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03458-6
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- Publication type:
- Article
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03429-x
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- Publication type:
- Article
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03419-z
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- Publication type:
- Article