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Seventeen alpha-hydroxylase deficiency.
Seventeen alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess,Expand
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Outcome of early-treated type III Gaucher disease patients.
Recombinant human acid β-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is stillExpand
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Congenital generalized lipodystrophy in Taiwan.
BACKGROUND Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in theExpand
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Psychometric testing of the short‐form Chinese version of the self‐management for adolescents with type 1 diabetes scale
Self-management among adolescents with type 1 diabetes (T1D) is poorer than in other age groups during childhood. A valid and reliable short-form scale to measure self-management in adolescents withExpand
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Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report
BackgroundComplete or partial trisomy 10q involves a duplication of 10q, or the long arm of chromosome 10. Distal 10q trisomy is a well-recognized and defined but rare genetic syndrome in whichExpand
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Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity, age at firstExpand