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아주대학교 의학문헌정보센터
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Browsing "Medical Genetics" by Journal : Orphanet journal of rare diseases
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Showing results 1 to 6 of 6
Pub Year
Title
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2017
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
손영배
2015
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
손영배
2019
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial
손영배
2013
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).
손영배
2020
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
손영배
2022
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
손영배
1
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아주대학교 의학문헌정보센터
