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Rie Anzai

Explore the profile of Rie Anzai including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 58
Followers 0
Related Specialties
Neurology
Pediatrics
Top 10 Co-Authors
Hirotomo Saitsu
Hitoshi Osaka
Naomichi Matsumoto
Sumimasa Yamashita
Tomohide Goto
Mitsuko Okuda
Kyoko Takano
Yoshinori Tsurusaki
Mariko Takagi
Noriko Aida
Published In
Brain Dev
No To Hattatsu
Epilepsia
Thyroid
Affiliations
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Recent Articles
1.
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction
Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, et al.
Brain Dev . 2020 Dec; 43(3):402-410. PMID: 33261925
Aim: MOGS mutations cause congenital disorders of glycosylation type IIb (CDG-IIb or GCS1-CDG). The specific manifestations caused by the mutations in this gene remain unknown. We aimed to describe the...
2.
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition
Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, et al.
Brain Dev . 2016 Jul; 38(10):959-963. PMID: 27371992
Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorder, caused by defects in the DDC gene. AADC catalyzes the synthesis of the neurotransmitters dopamine and serotonin from...
3.
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, et al.
Brain Dev . 2014 Dec; 37(6):638-42. PMID: 25457085
Vanishing white matter disease (VWM)/childhood ataxia with central hypomyelination (CACH) is an autosomal recessive leukoencephalopathy caused by mutations in one of five genes, EIF2B1-5, encoding the 5 subunits of eukaryotic...
4.
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, et al.
Epilepsia . 2014 Jan; 55(2):e13-7. PMID: 24417746
Aberrations in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations...
5.
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, et al.
Brain Dev . 2013 Sep; 36(7):630-3. PMID: 24045174
Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual...
6.
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations
Anzai R, Adachi M, Sho N, Muroya K, Asakura Y, Onigata K
Thyroid . 2012 Sep; 22(10):1069-75. PMID: 22947347
Background: The effectiveness of short-term 3,5,3'-triiodothyroacetic acid (TRIAC) therapy for the treatment of hyperthyroidism caused by thyroid hormone resistance (RTH) has been documented. Here, we report a 3-year course of...
7.
[Prognoses of acute encephalopathy]
Kurihara M, Kohagizawa T, Yoshihashi M, Iino C, Anzai R, Ida H
No To Hattatsu . 2011 Aug; 43(4):285-90. PMID: 21800692
We investigated the prognoses of 103 children with acute encephalopathy at more than one year from the onset. The patients were divided into five groups according to the clinical courses...