Suchergebnisse - "Oppebøen, Mari"

PubPharm (19)

1

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

enthalten in: Molecular genetics and metabolism | 2024

von Tokatly Latzer, I. | Bertoldi, M. | Blau, N. | +21

2

Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

enthalten in: Molecular genetics and metabolism | 2023

von Himmelreich, N. | Bertoldi, M. | Alfadhel, M. | +47

ErratumFor: Mol Genet Metab. 2023 Jul;139(3):107624. - PMID 37348148

3

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

enthalten in: Journal of inherited metabolic disease | 2023

von Yıldız, Y. | Kuseyri Hübschmann, O. | Akgöz Karaosmanoğlu, A. | +24

4

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

enthalten in: Molecular genetics and metabolism | 2023

von Himmelreich, N. | Bertoldi, M. | Alfadhel, M. | +47

ErratumIn: Mol Genet Metab. 2023 Aug;139(4):107647. - PMID 37453860

5

Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome : New Findings Using Untargeted Metabolomics

enthalten in: Pediatric neurology | 2023

von Salvador, C. | Oppebøen, M. | Vassli, A. | +4

6

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

enthalten in: Journal of inherited metabolic disease | 15 July 2023

von Yıldız, Y. | Kuseyri Hübschmann, O. | Akgöz Karaosmanoğlu, A. | +24

7

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

enthalten in: Journal of inherited metabolic disease | 2021

von Keller, M. | Brennenstuhl, H. | Kuseyri Hübschmann, O. | +37

8

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

enthalten in: Journal of inherited metabolic disease | November 2021

von Keller, M. | Brennenstuhl, H. | Kuseyri Hübschmann, O. | +36

9

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

enthalten in: Nature communications | 2021

von Kuseyri Hübschmann, O. | Horvath, G. | Cortès-Saladelafont, E. | +49

10

Brain MR patterns in inherited disorders of monoamine neurotransmitters : An analysis of 70 patients

enthalten in: Journal of inherited metabolic disease | 2021

von Kuseyri Hübschmann, O. | Mohr, A. | Friedman, J. | +30