Lista de obras - Kenji Yamada - Dominio Público Uruguay

A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay

scientific article published on 14 July 2012

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

artículo científico publicado en 2014

Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy

artículo científico publicado en 2016

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.

artículo científico publicado en 2018

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Elevation of pivaloylcarnitine by sivelestat sodium in two children

artículo científico publicado en 2015

First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L

artículo científico publicado en 2016

Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report

scientific article published on 11 April 2019

Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency

artículo científico publicado en 2014

Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1

scientific article published on 10 November 2012

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

scientific article published on 30 July 2020

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 06 November 2018

Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan

artículo científico publicado en 2018

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey

artículo científico publicado en 2019

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers

artículo científico publicado en 2019

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation

scientific article published on 13 April 2018

[Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults]

artículo científico publicado en 2013

Lista de obras de Kenji Yamada

A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.

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

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

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency

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

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby

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

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

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

Elevation of pivaloylcarnitine by sivelestat sodium in two children

First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L

Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report

Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency

Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events

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

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation

[Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults]