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Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene

Pediatrics international, 2023-01, Vol.65 (1), p.e15385-n/a

2023

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Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.87-91

2012

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

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.67-75

2017

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Serial brain imaging analysis of stroke-like episodes in MELAS

Brain & development (Tokyo. 1979), 2008-08, Vol.30 (7), p.483-488

2008

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Transient left temporal lobe lesion in Menkes disease may influence the generation of tonic spasms

Brain & development (Tokyo. 1979), 2011-04, Vol.33 (4), p.345-348

2011

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Ghrelin Concentration in Cord and Neonatal Blood: Relation to Fetal Growth and Energy Balance

The journal of clinical endocrinology and metabolism, 2003-11, Vol.88 (11), p.5473-5477

2003

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Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan

Pediatric research, 2008-12, Vol.64 (6), p.667-672

2008

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Epilepsy Properties and Seizure Suppression in a Severe Motor and Intellectual Disabilities

International journal of clinical medicine, 2016, Vol.7 (3), p.182-192

2016

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Pyruvate dehydrogenase E1α subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Brain & development (Tokyo. 1979), 2004, Vol.26 (1), p.57-60

2004

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Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency

Pediatrics international, 2010-08, Vol.52 (4), p.e181-e183

2010

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Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease

Pediatrics international, 2008-12, Vol.50 (6), p.825-827

2008

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Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening

Journal of chromatography. B, 2005-08, Vol.823 (1), p.7-12

2005

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Treatment for Leigh syndrome by monitoring dichloroacetate concentration

Pediatrics international, 2009-04, Vol.51 (2), p.293-295

2009

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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency

Brain & development (Tokyo. 1979), 2022-03, Vol.44 (3), p.244-248

2022

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MELAS: A nationwide prospective cohort study of 96 patients in Japan

Biochimica et biophysica acta, 2012-05, Vol.1820 (5), p.619-624

2012

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Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy

Journal of neuroscience research, 2004-08, Vol.77 (4), p.507-516

2004

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Dynamic changes in serum leptin concentrations during the fetal and neonatal periods

Pediatric research, 1999, Vol.45 (1), p.71-75

1999

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Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM

Diabetes care, 1998-01, Vol.21 (1), p.49

1998

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Plasma adiponectin levels in newborns are higher than those in adults and positively correlated with birth weight

Clinical endocrinology (Oxford), 2004-10, Vol.61 (4), p.418-423

2004

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Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)

No to hattatsu, 2014-11, Vol.46 (6), p.439

2014

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Serum Leptin Concentration in Cord Blood: Relationship to Birth Weight and Gender

The journal of clinical endocrinology and metabolism, 1997-05, Vol.82 (5), p.1642-1642

1997

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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Human mutation, 2000-01, Vol.15 (3), p.209-219

2000

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Novel mutation (R263X) of the E1[alpha] subunit in pyruvate dehydrogenase complex deficiency

Pediatrics international, 2010-08, Vol.52 (4), p.e181

2010

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Case of methylmalonic acidemia presenting clinically Leigh encephalopathy

No to hattatsu, 2004-07, Vol.36 (4), p.324

2004

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Mitochondrial aconitase

Nihon rinshō, 2002-04, Vol.60 Suppl 4, p.133

Naito, Etsuo

2002

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Thiamine‐responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

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

Serial brain imaging analysis of stroke-like episodes in MELAS

Transient left temporal lobe lesion in Menkes disease may influence the generation of tonic spasms

Ghrelin Concentration in Cord and Neonatal Blood: Relation to Fetal Growth and Energy Balance

Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan

Epilepsy Properties and Seizure Suppression in a Severe Motor and Intellectual Disabilities

Pyruvate dehydrogenase E1α subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency

Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease

Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening

Treatment for Leigh syndrome by monitoring dichloroacetate concentration

Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency

MELAS: A nationwide prospective cohort study of 96 patients in Japan

Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy

Dynamic changes in serum leptin concentrations during the fetal and neonatal periods

Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM

Plasma adiponectin levels in newborns are higher than those in adults and positively correlated with birth weight

Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)

Serum Leptin Concentration in Cord Blood: Relationship to Birth Weight and Gender

Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Novel mutation (R263X) of the E1[alpha] subunit in pyruvate dehydrogenase complex deficiency

Case of methylmalonic acidemia presenting clinically Leigh encephalopathy

Mitochondrial aconitase

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