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PubPharm (44)
1
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
enthalten in:
Journal of medical genetics
| 2023
von
Kishita, Y.
|
Sugiura, A.
|
Onuki, T.
| +15
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2
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
enthalten in:
Journal of human genetics
| 2023
von
Omichi, N.
|
Kishita, Y.
|
Nakama, M.
| +11
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3
Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency : A Case Report
enthalten in:
Pediatric neurology
| 2023
von
Motobayashi, M.
|
Munakata, S.
|
Kitazawa, N.
| +3
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4
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
enthalten in:
Molecular genetics and metabolism reports
| 2022
von
Ebihara, T.
|
Nagatomo, T.
|
Sugiyama, Y.
| +16
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5
Strategic validation of variants of uncertain significance in
ECHS1
genetic testing
enthalten in:
bioRxiv.org
| 2022
von
Kishita, Y.
|
Sugiura, A.
|
Onuki, T.
| +15
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6
Prenatal Diagnosis of Severe Mitochondrial Diseases Caused by Nuclear Gene Defects: A Study in Japan
enthalten in:
ResearchSquare.com
| 2022
von
Akiyama, N.
|
Shimura, M.
|
Yamazaki, T.
| +16
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7
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation
enthalten in:
ResearchSquare.com
| 2022
von
Shimura, M.
|
Kuranobu, N.
|
Ogawa-Tominaga, M.
| +21
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8
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation
enthalten in:
ResearchSquare.com
| 2022
von
Shimura, M.
|
Kuranobu, N.
|
Ogawa-Tominaga, M.
| +21
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9
Neonatal-onset mitochondrial disease : clinical features, molecular diagnosis and prognosis
enthalten in:
Archives of disease in childhood. Fetal and neonatal edition
| 2022
von
Ebihara, T.
|
Nagatomo, T.
|
Sugiyama, Y.
| +17
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10
Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome : An Indication for Performing Liver Transplantation?
enthalten in:
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
| 2022
von
Kasahara, M.
|
Sakamoto, S.
|
Fukuda, A.
| +15
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44
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Orphanet journal of rare diseases
5
Journal of inherited metabolic disease
5
Molecular genetics and metabolism reports
4
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4
ResearchSquare.com
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2
Human mutation
2
International journal of cardiology
1
Archives of disease in childhood. Fetal and neo...
1
Brain : a journal of neurology
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Journal of Inherited Metabolic Disease
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Liver transplantation : official publication of...
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bioRxiv.org
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Thema
19
Journal Article
13
Research Support, Non-U.S. Gov't
11
Leigh syndrome
9
Case Reports
8
DNA, Mitochondrial
5
Mitochondrial disease
4
570
4
Biology
4
Enzyme assay
4
Genetic analysis
4
Liver transplantation
4
Mitochondrial respiratory chain disorder
4
Mitochondrial translation
4
Oxidative phosphorylation
4
Oxygen consumption rate
4
PTCD3
4
Small mitoribosomal subunit
3
Alkaline phosphatase
3
Asfotase alfa
3
DGUOK
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Erscheinungszeitraum
32
2020-
12
2010-2019
Erscheinungsjahr(e)
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Sprache
41
Englisch
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