Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report
Nobuhiko Koga, Hiroaki Yodogawa, Takaaki Sawada, Yuichi Mushimoto et autres
0 citationsClinical Case Reports
Takaaki Sawada
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53Publications signalées
405Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implicationsMetabolism and Genetic DisordersStudies on Chitinases and Chitosanases
Publications récentes
Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in Japan
Yuya Kinoshita, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
0 citationsMolecular Genetics and Metabolism
Newborn screening for Fabry disease in Japan: an additional 3-year report
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida et autres
0 citationsMolecular Genetics and Metabolism Reports
ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype
Hidetaka Yoshimatsu, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
1 citationHuman Genome Variation
Long-Term Follow-up of Newborn Screening for Pompe Disease in Japan: Implications for Variant Interpretation and Clinical Management
Yuya Kinoshita, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
0 citationsSSRN Electronic Journal
Targeted dried blood spot screening for Gaucher disease and acid sphingomyelinase deficiency in Japanese patients with unexplained splenomegaly and/or thrombocytopenia
Takaaki Sawada, Jun Kido, Keishin Sugawara, Akie Kato et autres
0 citationsSSRN Electronic Journal
Regional Population-Based Newborn Screening for Gaucher Disease in Kumamoto and Fukuoka Prefectures, Japan: An Updated Report and Long-Term Outcomes of Screen-Identified Patients
Yuya Kinoshita, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
0 citationsSSRN Electronic Journal
T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan
Yuya Kinoshita, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
3 citationsCell Biochemistry and Biophysics
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis
Takaaki Sawada, Jun Kido, Takahiro Tsukimura, Keishin Sugawara et autres
0 citationsMolecular Genetics and Metabolism Reports
Newborn screening for spinal muscular atrophy: The potential of digital polymerase chain reaction technique
Jun Kido, Ken Haruno, Keishin Sugawara, Kotaro Anan et autres
3 citationsMolecular Genetics and Metabolism
A boy with drug-resistant epilepsy and aortopulmonary collateral arteries arising from a KCNT1 variant
Kentaro Okada, Takaaki Sawada, Shiro Ozasa, Keiko Nomura et autres
1 citationBrain and Development Case Reports
Development of a Dried Blood Spot-Based Newborn Screening Approach for Adenosine Deaminase Deficiency
Yuya Kinoshita, Jun Kido, Takaaki Sawada, Keishin Sugawara et autres
0 citationsSSRN Electronic Journal
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