Diana Ballhausen
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Explore the profile of Diana Ballhausen including associated specialties, affiliations and a list of published articles.
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58
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1280
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Recent Articles
1.
Das A, Ballhausen D, Haas D, Haberle J, Hagedorn T, Janson-Mutsaerts C, et al.
J Inherit Metab Dis
. 2024 Dec;
48(1):e12824.
PMID: 39676394
Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has...
2.
Brunet T, Zott B, Lieftuchter V, Lenz D, Schmidt A, Peters P, et al.
Genet Med
. 2023 Nov;
26(2):101013.
PMID: 37924258
Purpose: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in...
3.
Kern I, Foland P, Ballhausen D
Rev Med Suisse
. 2023 Feb;
19(815):358-361.
PMID: 36815325
Advances in bioanalytical technologies such as high throughput sequencing have paved the way for an exponential increase in the discovery of inborn errors of metabolism (IEM), which now sum up...
4.
Boy N, Muhlhausen C, Maier E, Ballhausen D, Baumgartner M, Beblo S, et al.
J Inherit Metab Dis
. 2022 Oct;
46(3):482-519.
PMID: 36221165
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase...
5.
Grunert S, Derks T, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, et al.
Genet Med
. 2022 May;
24(8):1781-1788.
PMID: 35503103
Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). Methods: This is an...
6.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, et al.
Genet Med
. 2022 May;
24(7):1583-1591.
PMID: 35499524
Purpose: CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled...
7.
Mutze U, Gleich F, Garbade S, Plisson C, Aldamiz-Echevarria L, Arrieta F, et al.
J Inherit Metab Dis
. 2022 Mar;
45(4):719-733.
PMID: 35358327
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine...
8.
Fontana A, Gonzalez Melo M, Allenbach G, Georgantas C, Wang R, Braissant O, et al.
Am J Nucl Med Mol Imaging
. 2022 Jan;
11(6):519-528.
PMID: 35003889
Introduction: Evaluation of glomerular filtration rate is very important in both preclinical and clinical setting, especially in the context of chronic kidney disease. It is typically performed using Cr-EDTA or...
9.
Gonzalez Melo M, Fontana A, Viertl D, Allenbach G, Prior J, Rotman S, et al.
Mol Genet Metab
. 2021 Nov;
134(4):287-300.
PMID: 34799272
Glutaric aciduria type I (GA-I, OMIM # 231670) is an autosomal recessive inborn error of metabolism caused by deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). The principal clinical manifestation...
10.
Didisheim C, Ballhausen D, Choucair M, Longchamp D, Natterer J, Ferry T, et al.
J Pediatr Intensive Care
. 2021 Nov;
10(4):307-310.
PMID: 34745706
In this article, we presented a teenager, in maintenance chemotherapy for leukemia, who was admitted for digestive symptoms related to a parasitic infection and required nutritional support with parenteral nutrition....