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/vufind/Search/Results?lookfor=%22Park%2C+Julien+H%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Park%2C+Julien+H%22&type=Person&sort=year
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PubPharm (28)
1
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
enthalten in:
Science translational medicine
| 2024
von
Donkervoort, S.
|
van de Locht, M.
|
Ronchi, D.
| +41
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2
Treatment of AICA ribosiduria by suppression of de novo purine synthesis
enthalten in:
Molecular genetics and metabolism
| 2024
von
Park, J.
|
Och, U.
|
Braun, T.
| +5
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3
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C
enthalten in:
The New England journal of medicine
| 2024
von
Bremova-Ertl, T.
|
Ramaswami, U.
|
Brands, M.
| +19
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4
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency : Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Berendes, L.
|
Westhoff, P.
|
Wittkowski, H.
| +4
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5
Pathogenic Relationships in Cystic Fibrosis and Renal Diseases : CFTR, SLC26A9 and Anoctamins
enthalten in:
International journal of molecular sciences
| 2023
von
Kunzelmann, K.
|
Ousingsawat, J.
|
Kraus, A.
| +4
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6
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
enthalten in:
Brain communications
| 2023
von
Park, J.
|
Nordström, U.
|
Tsiakas, K.
| +18
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7
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
enthalten in:
Brain : a journal of neurology
| 2022
von
Ezer, S.
|
Daana, M.
|
Park, J.
| +10
CommentIn: Brain. 2022 Mar 08;:. - PMID 35259258
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8
Mannose supplementation in PMM2-CDG
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Taday, R.
|
Park, J.
|
Grüneberg, M.
| +3
CommentOn: Orphanet J Rare Dis. 2020 Sep 22;15(1):258. - PMID 32962735
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9
Mannose supplementation in PMM2-CDG
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Taday, R.
|
Park, J.
|
Grüneberg, M.
| +3
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10
TMEM16A deficiency : a potentially fatal neonatal disease resulting from impaired chloride currents
enthalten in:
Journal of medical genetics
| 2021
von
Park, J.
|
Ousingsawat, J.
|
Cabrita, I.
| +9
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Zeitschriftentitel
4
Molecular genetics and metabolism reports
3
Brain : a journal of neurology
2
American journal of human genetics
2
Orphanet journal of rare diseases
1
Alcohol and alcoholism (Oxford, Oxfordshire)
1
Brain communications
1
Clinica chimica acta
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1
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Journal of Inherited Metabolic Disease
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1
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Thema
21
Journal Article
4
42Z2K6ZL8P
4
Case Reports
4
Cation Transport Proteins
4
Galactose
4
Manganese
4
Research Support, Non-U.S. Gov't
4
SLC39A8 protein, human
4
Transferrin
3
Congenital disorders of glycosylation
3
EC 1.15.1.1
3
SOD1 protein, human
3
Superoxide Dismutase-1
3
Therapy
2
Biomarkers
2
Calcium
2
Comment
2
Congenital disorder of glycosylation
2
Isoelectric focusing
2
Letter
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Erscheinungszeitraum
18
2020-
10
2010-2019
Erscheinungsjahr(e)
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26
Englisch
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