Suchergebnisse - "Van Hove, Johan L K"

PubPharm (163)

1

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype

enthalten in: Orphanet journal of rare diseases | 2024

von Van Hirtum, L. | Van Damme, T. | Van Hove, J. | +1

2

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype

enthalten in: Orphanet journal of rare diseases | 2024

von Van Hirtum, L. | Van Damme, T. | Van Hove, J. | +1

3

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

enthalten in: bioRxiv.org | 2024

von Swanson, M. | Jiang, H. | Busquet, N. | +8

4

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

enthalten in: bioRxiv : the preprint server for biology | 2024

von Swanson, M. | Jiang, H. | Busquet, N. | +8

5

Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases

enthalten in: Hepatology communications | 2024

von Van Hove, J. | Friederich, M. | Strode, D. | +25

ErratumIn: Hepatol Commun. 2024 Jan 29;8(2):. - PMID 38285878

6

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

enthalten in: Genes | 2023

von Ligezka, A. | Budhraja, R. | Nishiyama, Y. | +10

7

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy : The MMPOWER-3 Randomized Clinical Trial

enthalten in: Neurology | 2023

von Karaa, A. | Bertini, E. | Carelli, V. | +61

8

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children

enthalten in: Hepatology communications | 2023

von Squires, J. | Miethke, A. | Valencia, C. | +23

9

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea : Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

enthalten in: JIMD reports | 2023

von Poquérusse, J. | Nolan, M. | Thorburn, D. | +10

10

Correction : Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

enthalten in: Orphanet journal of rare diseases | 2023

von Shelkowitz, E. | Saneto, R. | Al-Hertani, W. | +10

ErratumFor: Orphanet J Rare Dis. 2022 Dec 5;17(1):423. - PMID 36471344

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