Suchergebnisse - "Karall, Daniela"

PubPharm (293)

1

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Posset, R. | Garbade, S. | Gleich, F. | +58

2

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

enthalten in: Journal of inherited metabolic disease | 2024

von Aldrian, D. | Waldner, B. | Vogel, G. | +20

3

Langkettige Fettsäureoxidationsstörungen, ihre Früherkennung und die Rolle des Stillens

enthalten in: Pädiatrie & Pädologie | 2024

von Zöggeler, T. | Scholl-Bürgi, S. | Karall, D.

4

L-serine treatment in patients with GRIN-related encephalopathy : A phase 2A, non-randomized study

enthalten in: Brain : a journal of neurology | 2024

von Juliá-Palacios, N. | Olivella, M. | Sigatullina Bondarenko, M. | +44

5

New description of an MRPS2 homozygous patient : Further features to help expend the phenotype

enthalten in: European journal of medical genetics | 2024

von Papadopoulos, T. | Gaignard, P. | Schiff, M. | +5

6

Familial hypercholesterolaemia in children and adolescents from 48 countries : a cross-sectional study

enthalten in: Lancet (London, England) | 2024

von European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration | Dharmayat, K. | Vallejo-Vaz, A. | +98

7

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

enthalten in: Journal of Inherited Metabolic Disease | 2024

von Aldrian, D. | Waldner, B. | Vogel, G. | +20

8

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

enthalten in: bioRxiv.org | 2023

von Stenton, S. | Shimura, M. | Piekutowska-Abramczuk, D. | +65

9

Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection

enthalten in: Immunity | 2023

von West, E. | Merle, N. | Kamiński, M. | +21

10

Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation : A Strong Case for a Targeted Metabolic Therapy

enthalten in: Metabolites | 2023

von Renaud, D. | Scholl-Bürgi, S. | Karall, D. | +1

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