Concepedia

Rie Anzai

RA

Statistics

Publications

5

Citations

108

H-Index

5

Active since

2013

Affiliations

Kanagawa Children's Medical Center(Current)

Yokohama City University

Jichi Medical University

Rie Anzai is an author at Kanagawa Children's Medical Center specializing in life sciences, genetic disorders, and molecular genetics.

Publications per year

2013–2020

5

Publications

5

<i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami et al. · Epilepsia · 2014 · 49 citations · Full text

, , +17

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

Rie Anzai, Megumi Tsuji, Sumimasa Yamashita et al. · Brain and Development · 2020 · 18 citations · Full text

, , +17

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo et al. · Brain and Development · 2013 · 16 citations

, , +6

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

Kyoko Takano, Yu Tsuyusaki, Mutsumi Sato et al. · Brain and Development · 2014 · 13 citations

, , +17

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

Karin Kojima, Rie Anzai, Chihiro Ohba et al. · Brain and Development · 2016 · 12 citations

, , +14

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