Works matching IS 17501172 AND DT 2021 AND VI 16
Results: 549
Childhood rare diseases and the UN convention on the rights of the child.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
National Rare Diseases Registry System (NRDRS): China's first nation-wide rare diseases demographic analyses.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Genetic testing and diagnosis of inherited retinal diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.
- Published in:
- 2021
- By:
- Publication type:
- journal article
On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Current status of newborn screening for Pompe disease in Japan.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02018-6
- By:
- Publication type:
- Article
Physical and mental growth and development in children with congenital hypothyroidism: a case–control study.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02017-7
- By:
- Publication type:
- Article
Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case-control study.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II.
- Published in:
- 2021
- By:
- Publication type:
- journal article
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Development and content validation of a symptom assessment for eosinophilic gastritis and eosinophilic gastroenteritis in adults and adolescents.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinics and genetic background of hereditary gingival fibromatosis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Randomized and non-randomized designs for causal inference with longitudinal data in rare disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Measuring Duchenne muscular dystrophy impact: development of a proxy-reported measure derived from PROMIS item banks.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?
- Published in:
- 2021
- By:
- Publication type:
- journal article
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02013-x
- By:
- Publication type:
- Article
Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Scientific evidence based rare disease research discovery with research funding data in knowledge graph.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02120-9
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- Publication type:
- Article
NeoSeq: a new method of genomic sequencing for newborn screening.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02116-5
- By:
- Publication type:
- Article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Identification and treatment of primary cervical gestational trophoblastic neoplasia: a retrospective study of 13 patients and literature review.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02111-w
- By:
- Publication type:
- Article
Extranodal natural killer/T-cell lymphoma of the breast: a retrospective clinicopathological analysis of a consecutive 11-year case series.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02110-x
- By:
- Publication type:
- Article
Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02109-4
- By:
- Publication type:
- Article
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02108-5
- By:
- Publication type:
- Article