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CN1699 Our Business - Guide for Agents
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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
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Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States
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Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly depende...
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Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study
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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
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The challenges of classical galactosemia: HRQoL in pediatric and adult patients
Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cogniti...
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The epidemiology, clinical presentation and treatment outcomes in CNS actinomycosis: a systematic review of reported cases
CNS actinomycosis is a rare chronic suppurative infection with non-specific clinical features. Diagnosis is difficult due ...
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Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on...
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Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approxim...
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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hy...
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The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges
Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complic...
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Hypertension, antihypertensive drugs, and age at onset of Huntington’s disease
Associations between blood pressure (BP) with age at onset of Huntington’s disease (HD) have reported inconsistent f...
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Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of...
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Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies
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Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
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Oral antibiotic prophylaxis for infection in patients with vascular anomalies receiving sirolimus treatment: a multicenter retrospective study
Patients with vascular anomalies (VAs) who receive oral sirolimus may be at high risk of infectious complications. Antibio...
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Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions
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The experience of living with Niemann–Pick type C: a patient and caregiver perspective
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Trend of clinical trials of new drugs for rare diseases in China in recent 10 years
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IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes
Intestinal malrotation is a rare congenital condition with potentially devastating consequences due to potential volvulus ...
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Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
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A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review
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The value of 18F-FDG PET/CT in the systemic evaluation of patients with Rosai–Dorfman disease: a retrospective study and literature review
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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has b...
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Objective measurement of oral function in adults with spinal muscular atrophy
Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by establish...
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A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient number...
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Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary ...
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French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes
Eosinophilic-related clinical manifestations are protean and the underlying conditions underpinning eosinophilia are highl...
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Esophageal papillomatosis: an exceedingly rare disease
If esophageal papilloma (EP) is a rare condition, esophageal papillomatosis (EPS) is a distinct rarity. To date, only 53 w...
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