Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy.
Carvedilol plus an ACEI improves left ventricular systolic function in patients with muscular dystrophy.
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
Although the patients studied here showed similar clinical features as previously described for PCH1D, relatively greater intellectual development and normal pontine structure were recognized, and the clinical consequences of biallelic EXOSC9 variants are expanded.
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
National registry of patients with Fukuyama congenital muscular dystrophy in Japan
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy