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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be considered for testing and when it should be performed to maximize clinicalExpand
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Consensus statement for the treatment of infantile haemangiomas with propranolol
Although most infantile haemangiomas do not require treatment due to a natural history of spontaneous involution, some require early intervention. The Australasian Vascular Anomalies Network and theExpand
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Embryonic Stem Cell-Derived Glial Precursors as a Vehicle for Sulfamidase Production in the MPS-IIIA Mouse Brain
Pluripotent stem cells, including human embryonic stem cells and induced pluripotent stem cells, have generated much excitement about their prospects for use in cell transplantation therapies. ThisExpand
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Behavioural characterisation of the alpha-mannosidosis guinea pig.
alpha-Mannosidosis is a lysosomal storage disorder resulting from a functional deficiency of the lysosomal enzyme alpha-mannosidase. This deficiency results in the accumulation of variousExpand
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Accuracy of partial biopsies in the management of cutaneous melanoma
The recommended method for histopathological diagnosis of cutaneous melanoma is excisional biopsy, although partial biopsies (shave and punch) are often used. Following a partial biopsy, treatmentExpand
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Over-expression of human lysosomal α-mannosidase in mouse embryonic stem cells
Alpha-mannosidosis is a lysosomal storage disorder characterised by the lysosomal accumulation of mannose-containing oligosaccharides and a range of pathological consequences, caused by a deficiencyExpand
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Treatment of cutaneous iatrogenic Kaposi sarcoma with topical timolol
as an angiomyxoma. In 1985 Carney and colleagues first defined angiomyxoma as a part of Carney’s syndrome; an autosomal dominant syndrome, which includes the presence of multiple cardiac andExpand
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Granular parakeratosis induced by benzalkonium chloride exposure from laundry rinse aids
Benzalkonium chloride is a quaternary ammonium cationic detergent present in a number of household products, which can act as a major skin irritant. We present the case of six children who developedExpand
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Low‐dose rituximab and concurrent adjuvant therapy for pemphigus: Protocol and single‐centre long‐term review of nine patients
Pemphigus is an autoimmune B‐cell mediated blistering disease associated with significant morbidity and mortality. Rituximab has proven effective for the treatment of steroid‐refractory pemphigus,Expand
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Diverse members of the Xylariales lack canonical mating-type regions.
A survey of genomes reported here for 10 isolates of Monosporascus species and an additional 25 genomes from other members of the Xylariales (representing 15 genera) available in public databasesExpand
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