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List of works by Masahiko Kimura

3-Hydroxyisobutyric aciduria in two brothers

scientific article published on 01 March 1998

A case of West syndrome well controlled by very short and low-dose ACTH therapy

scientific article published in February 1999

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation

scientific article published on 16 April 2002

A new quantitative analytical method of serum biotinidase activity using biocytin as a substrate and its clinical significance in Japan

scientific article

A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots

scientific article published in February 2002

A sensitive method for 4-hydroxybutyric acid in urine using gas chromatography-mass spectrometry

scientific article

A severely brain-damaged case of 3-hydroxyisobutyric aciduria

scientific article

A successfully treated adult patient with L-2-hydroxyglutaric aciduria

scientific article

A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.

scientific article published in October 2002

A variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect

scientific article published in March 2001

Carbamazepine-exacerbated epilepsy with multifocal shifting independent epileptiform discharges on electroencephalogram: a case report

scientific article published on 01 March 1995

Carbamazepine-induced thrombocytopenia and carbamazepine-10,11-epoxide: a case report.

scientific article

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening

scientific article published in January 2005

Distal myopathy with rimmed vacuoles in a case of opercular syndrome

scientific article published on 28 February 2006

Effect of antiepileptic drugs on thyroid function

scientific article published on 01 August 1995

Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect

scientific article

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

scientific article

Glycerol kinase deficiency: evidence for complexity in a single gene disorder

scientific article

High prevalence of anemia in 10-month-old breast-fed Japanese infants

scientific article published on 20 June 2018

Hypomelanosis of Ito: MR findings

scientific article published in January 1994

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published on March 2002

Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl

scientific article published in June 1997

Late-onset Rash in Patients with Group A Beta-hemolytic Streptococcal Pharyngitis Treated with Amoxicillin.

scientific article

Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome

scientific article published on 01 February 1997

Megolocornea: mental retardation syndrome with delayed myelination

scientific article published on 01 January 1991

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

scientific article published in September 2002

Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene

scientific article

Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

scientific article published on 01 September 1995

Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation

scientific article

Parental questionnaire study showed that annular ligament displacement was common in three-year-old children and almost a half had reoccurring episodes

scientific article published on 14 June 2018

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

scientific article published on 01 May 2001

Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry

scientific article published in August 2005

Seizure recurrence after reduction of an antiepileptic drug in patients with unprovoked seizures and severe neurological abnormalities

scientific article published on 01 February 2000

Serial magnetic resonance angiography in cerebral infarction after varicella infection

scientific article published in October 2002

Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening

scientific article published on 01 April 2000

Technetium-99m-HMPAO SPECT in patients with hemiconvulsions followed by Todd's paralysis

scientific article published on 01 February 1998

The first case of 4-hydroxybutyric aciduria in Japan

scientific article published in March 2001

Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene

scientific article published on 14 February 2006

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