The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts
Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …
has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the …
Screening for Fabry disease in a series of Parkinson's disease patients and literature review
S Perillo, GR Palmieri, MO Del Moral… - Neurological …, 2023 - Springer
Background So far, mutations in genes encoding lysosomal enzymes have been associated
with Parkinson's disease (PD). Fabry disease (FD) is an X-linked lysosomal storage disease …
with Parkinson's disease (PD). Fabry disease (FD) is an X-linked lysosomal storage disease …
Prevalence of Fabry disease and GLA c. 196G> C variant in Japanese stroke patients
K Nagamatsu, Y Sekijima, K Nakamura… - Journal of Human …, 2017 - nature.com
Fabry disease is an important underlying disease in young cryptogenic stroke patients.
However, little is known regarding the frequency of Fabry disease in the general stroke …
However, little is known regarding the frequency of Fabry disease in the general stroke …
[HTML][HTML] Increased pulsatility index supports diagnosis of vascular parkinsonism versus idiopathic Parkinson's disease
LM Caba, JIT Ferrairó, IM Torres, JFV Costa… - Neurología (English …, 2020 - Elsevier
Introduction The diagnosis of vascular parkinsonism (VP) is based on a series of clinical
criteria and neuroimaging findings. An increase in transcranial Doppler ultrasonography …
criteria and neuroimaging findings. An increase in transcranial Doppler ultrasonography …
My History in Juntendo University
Y Okuma - Juntendo Medical Journal, 2023 - jstage.jst.go.jp
With my retirement as a professor, I would like to review my 47-year history of studying and
working at Juntendo University. I was admitted to Juntendo University School of Medicine in …
working at Juntendo University. I was admitted to Juntendo University School of Medicine in …
[HTML][HTML] El índice de pulsatilidad intracraneal elevado apoya el diagnóstico de parkinsonismo vascular frente a enfermedad de Parkinson idiopática
LM Caba, JIT Ferrairó, IM Torres, JFV Costa, RB Muñoz… - Neurologia, 2020 - Elsevier
Introducción El diagnóstico de parkinsonismo vascular (PV) se realiza en función de una
serie de criterios clínicos y hallazgos de neuroimagen compatibles. El aumento en el índice …
serie de criterios clínicos y hallazgos de neuroimagen compatibles. El aumento en el índice …
Publications from Juntendo University Graduate School of Medicine, 2015 [2/6]
K Otomi, T Yamaguchi, H Kobayashi - Thromb Res, 2015 - jstage.jst.go.jp
* 13) Ishihara T, Inoue Y, Nishiyama K, Sueyoshi K, Sumi Y, Matsuda S, Okamoto K, Tanaka
H: Analysis of pseudoaneurysms in solid organs after blunt abdominal injury in pediatric age …
H: Analysis of pseudoaneurysms in solid organs after blunt abdominal injury in pediatric age …
[PDF][PDF] Prevalence of Fabry Disease and GLA c. 196G> C Variant in Japanese Stroke Patients (日本人脳卒中患者におけるFabry 病およびGLA c. 196G> C 変異の頻度)
永松清志郎 - 2016 - soar-ir.repo.nii.ac.jp
(論文の内容の要旨)[背景] Fabry 病は GLA 遺伝子変異により α ガラクトシダーゼ A (α-Gal A)
が欠損する X 連鎖性のリソソーム蓄積病で腎臓, 心臓, 脳, 皮膚の血管内皮などにグルボトリアシル …
が欠損する X 連鎖性のリソソーム蓄積病で腎臓, 心臓, 脳, 皮膚の血管内皮などにグルボトリアシル …