原著論文1
Hideo Sasai, Nobuyuki Shimozawa, Takahiko Asano, et al
Successive MRI findings of reversible cerebral white matter lesions in a patient with cystathionine beta- synthase deficiency
Tohoku J Exp Med
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原著論文2
Aoyama Y, Yamamoto T, Sakaguchi N
Application of Multiplex ligation-dependent probe amplification and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two Japanese patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Int J Mol Med
, 35
, 1554-1560
(2015)
原著論文3
Omata T,Fujii K, Takahashi J et al.
Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics
J Neurol Sci.
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(2016)
原著論文4
Erdol S, Ture M, Yakut T, Saglam H, et al.
A Turkish patient with Succinyl-CoA:3-oxoacid CoA transferase deficiency mimicking diabetic ketoacidosis.
Journal of Inborn Errors of Metabolism and Screening
, 4
(2016)
10.1177/2326409816651281
原著論文5
Otsuka H, Sasai H, Nakama M, Aoyama Y, et al.
Exon 10 skipping in ACAT1 caused by a novel mutation (c.949G>A) located at an exonic splice enhancer site
Molecular Medicine Reports
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, 4906-4910
(2016)
原著論文6
Abdelkreem E, Akella R, Dave U, Sane S, et al.
Clinical and mutational characterizations of 10 Indian patients with beta-ketothiolase deficiency.
JIMD reports
(2016)
10.1007/8904_2016_26
原著論文7
Otsuka H, Sasai H, Abdelkreem E, Kawamoto N, et al.
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.
Tohoku J Exp Med
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