Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease

This work is supported by National Science and Technology Council grants and National Cheng Kung University Hospital.

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Publication Details

Journal
EBioMedicine
Published
2024-11-29
DOI
https://doi.org/10.1016/j.ebiom.2024.105476
Citations
6
Primary Topic
Moyamoya disease diagnosis and treatment
Type
article
Field-Weighted Citation Impact
2.82

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article

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease

Yin‐Hsiu Chien, Meng‐Che Tsai, Peter Michael Krawitz, Chia-Yi Li et al.
6 citations
EBioMedicine
Moyamoya disease diagnosis and treatment
2.82
article

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease

Yin‐Hsiu Chien, Meng‐Che Tsai, Peter Michael Krawitz, Chia-Yi Li, Hannah Klinkhammer, Hui‐An Chen, Sheng‐Hsiang Lin, Wuh‐Liang Hwu, Lynn L. H. Huang, Yen‐Yin Chou, Po‐Min Chiang, Ni‐Chung Lee, Tzung‐Chien Hsieh, Yi‐Ting Huang, Yu-Ming Chang, Ju‐Li Lin, Peng‐Chieh Chen, P. J. Lin, Min-Hsiu Shih, Yi-Chieh Wang, Pen-Hua Su, Li‐Wen Chen
article en
6 citations

Abstract

This work is supported by National Science and Technology Council grants and National Cheng Kung University Hospital.

EBioMedicineVol. 110
University of Bonn (DE), China Medical University (TW), University Hospital Bonn (DE), Chang Gung Memorial Hospital (TW), Chung Shan Medical University Hospital (TW), China Medical University Hospital (TW), National Taiwan University Hospital (TW), National Cheng Kung University Hospital (TW), Chung Shan Medical University (TW), National Cheng Kung University (TW)
National Cheng Kung University Hospital, National Cheng Kung University, National Science and Technology Council
Zero hunger
Openalex Percentile: Top 9%
Moyamoya disease diagnosis and treatment
2.82
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