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Martin Merkel

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Articles 48
Citations 1926
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Recent Articles
1.
Schumann A, Garbade S, Beblo S, Gautschi M, Haas D, Hochuli M, et al.
Mol Genet Metab . 2025 Feb; 144(3):109054. PMID: 39954548
Glycogen storage disease (GSD) type Ia (glucose-6-phosphatase deficiency) and Ib (glucose-6-phosphate transporter deficiency) are both clinically characterized by fasting hypoglycaemia and hepatomegaly. Chronic kidney disease (CKD) with loss of glomerular...
2.
Tchan M, Lehman A, van Dussen L, Langendonk J, Janssen M, Langeveld M, et al.
J Inherit Metab Dis . 2025 Feb; 48(2):e70005. PMID: 39912519
There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper...
3.
Horn S, Neuhann T, Hennig C, Abad-Perez A, Prott E, Cardellini L, et al.
Front Neurol . 2024 Sep; 15:1391425. PMID: 39258154
Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene () have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of variants. We identified four...
4.
Busch H, Wolfrum S, Michels G, Baumgartel M, Bodmann K, Buerke M, et al.
Med Klin Intensivmed Notfmed . 2024 Apr; 119(Suppl 1):1-50. PMID: 38625382
In Germany, physicians qualify for emergency medicine by combining a specialty medical training-e.g. internal medicine-with advanced training in emergency medicine according to the statutes of the State Chambers of Physicians...
5.
Merkel M
MMW Fortschr Med . 2024 Feb; 166(Suppl 1):16-18. PMID: 38376675
No abstract available.
6.
Parhofer K, Birkenfeld A, Krone W, Lehrke M, Marx N, Merkel M, et al.
Exp Clin Endocrinol Diabetes . 2024 Jan; 132(2):57-62. PMID: 38224696
No abstract available.
7.
Merkel M
Dtsch Med Wochenschr . 2023 Aug; 148(17):1088-1094. PMID: 37611572
In recent years, clinical scientific data on LDL cholesterol and atherosclerosis has led to lowering of LDL-C targets and the expansion of the indication for lipid drug therapy to larger...
8.
Marz W, Schmidt N, An Haack I, Dressel A, Grammer T, Kleber M, et al.
Atheroscler Plus . 2023 Jul; 53:6-15. PMID: 37434912
Background And Aims: Familial hypercholesterolemia (FH) is among the most common genetic disorders in primary care. However, only 15% or less of patients are diagnosed, and few achieve the goals...
9.
Merkel M, Berg D, Bruggemann N, Classen J, Mainka T, Zittel S, et al.
J Neurol . 2023 Apr; 270(8):3675-3687. PMID: 37081197
Objective: Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported...
10.
Niederau C, Regenbogen C, Fruehauf H, Merkel M, Ziagaki A, Mengel E, et al.
Z Gastroenterol . 2023 Apr; 61(4):375-380. PMID: 37040780
Background: Continuation of standard management of Gaucher disease (GD) has been challenging during the COVID-19 pandemic, resulting in infrequent/missed infusions and follow-up appointments. Little data are available on the consequences...