First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia

Erika Ogawa; Chika Takano; Natsuko Arai-Ichinoi; Takashi Hamazaki; Hideo Sasai; Ichiro Morioka; Mika Ishige

doi:10.1111/ped.70240

First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia

Erika Ogawa, Chika Takano, Natsuko Arai-Ichinoi, Takashi Hamazaki, Hideo Sasai, Ichiro Morioka, Mika Ishige

School of Medicine

Research output: Contribution to journal › Comment/debate

Original language	English
Article number	e70240
Journal	Pediatrics International
Volume	67
Issue number	1
DOIs	https://doi.org/10.1111/ped.70240
Publication status	Published - 1 Jan 2025

Keywords

DNAJC12
co-chaperone
hyperphenylalaninemia
neurotransmitter
newborn screening

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10.1111/ped.70240

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title = "First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia",

keywords = "DNAJC12, co-chaperone, hyperphenylalaninemia, neurotransmitter, newborn screening",

author = "Erika Ogawa and Chika Takano and Natsuko Arai-Ichinoi and Takashi Hamazaki and Hideo Sasai and Ichiro Morioka and Mika Ishige",

year = "2025",

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doi = "10.1111/ped.70240",

language = "English",

volume = "67",

journal = "Pediatrics International",

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T1 - First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia

AU - Ogawa, Erika

AU - Takano, Chika

AU - Arai-Ichinoi, Natsuko

AU - Hamazaki, Takashi

AU - Sasai, Hideo

AU - Morioka, Ichiro

AU - Ishige, Mika

PY - 2025/1/1

Y1 - 2025/1/1

KW - DNAJC12

KW - co-chaperone

KW - hyperphenylalaninemia

KW - neurotransmitter

KW - newborn screening

UR - https://www.scopus.com/pages/publications/105019783616

U2 - 10.1111/ped.70240

DO - 10.1111/ped.70240

M3 - Comment/debate

C2 - 41133280

AN - SCOPUS:105019783616

SN - 1328-8067

VL - 67

JO - Pediatrics International

JF - Pediatrics International

IS - 1

M1 - e70240

ER -

First Japanese case of DNAJC12 deficiency diagnosed after 18 years of follow-up for mild hyperphenylalaninemia

Keywords

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