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List of works by Ryosuke Bo

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

scientific article published on 11 January 2018

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.

scientific article published on 5 December 2015

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

scientific article published on 2 May 2017

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

scientific article published on 18 May 2017

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.

scientific article published on 21 September 2015

Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.

scientific article published on 30 August 2016

Elevation of pivaloylcarnitine by sivelestat sodium in two children

scientific article

Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells With Bone Marrow Transplantation Improved Osteogenesis in Infants With Severe Hypophosphatasia

scientific article published on 13 November 2014

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

scientific article published on 31 July 2017

Preliminary Effectiveness and Safety of High Frequency Oscillation in Addition to Mechanical Insufflation and Exsufflation for Intratracheal Mucus Removal in Patients With Neuromuscular Disease: Protocol for a Prospective Study

scientific article published on 27 June 2019

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening

scientific article published on 14 December 2017

The prescription rates of glucagon for hypoglycemia by pediatricians and physicians are low in Japan

scientific article published on 26 October 2018

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