Kurt Ullrich
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Explore the profile of Kurt Ullrich including associated specialties, affiliations and a list of published articles.
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48
Citations
1067
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0
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Recent Articles
1.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
2.
Polovitskaya M, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, et al.
J Biol Chem
. 2024 Jun;
300(7):107437.
PMID: 38838776
Together with its β-subunit OSTM1, ClC-7 performs 2Cl/H exchange across lysosomal membranes. Pathogenic variants in either gene cause lysosome-related pathologies, including osteopetrosis and lysosomal storage. CLCN7 variants can cause recessive...
3.
Mehta A, Ramaswami U, Muenzer J, Giugliani R, Ullrich K, Collin-Histed T, et al.
Orphanet J Rare Dis
. 2021 Jan;
16(1):8.
PMID: 33407729
Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperone therapy,...
4.
Dohrmann T, Muschol N, Sehner S, Punke M, Haas S, Roeher K, et al.
Paediatr Anaesth
. 2019 Dec;
30(2):181-190.
PMID: 31834659
Background: Children suffering from mucopolysaccharidoses (subtypes I, II, III, IV, VI, and VII) or mucolipidoses often require anesthesia, but are at high risk for perioperative adverse events. However, the impact...
5.
Muschol N, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann J, et al.
Orphanet J Rare Dis
. 2019 May;
14(1):93.
PMID: 31046785
Background: Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan...
6.
Burgard P, Ullrich K, Ballhausen D, Hennermann J, Hollak C, Langeveld M, et al.
Lancet Diabetes Endocrinol
. 2017 Aug;
5(9):681-683.
PMID: 28842158
No abstract available.
7.
Schmidt M, Breyer S, Lobel U, Yarar S, Stucker R, Ullrich K, et al.
Orphanet J Rare Dis
. 2016 Jul;
11(1):93.
PMID: 27392569
Background: Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement of life expectancy, the beneficial effect on the...
8.
Schlegel G, Scholz R, Ullrich K, Santer R, Rune G
Exp Neurol
. 2016 Apr;
281:28-36.
PMID: 27091224
High phenylalanine concentrations in the brain due to dysfunctional phenylalanine hydroxylase (Pah) are considered to account for mental retardation in phenylketonuria (PKU). In this study, we treated hippocampal cultures with...
9.
Horling K, Schlegel G, Schulz S, Vierk R, Ullrich K, Santer R, et al.
Hum Mol Genet
. 2014 Oct;
24(4):1007-18.
PMID: 25296915
In humans, lack of phenylalanine hydroxylase (Pah) activity results in phenylketonuria (PKU), which is associated with the development of severe mental retardation after birth. The underlying mechanisms, however, are poorly...
10.
Muhlhausen C, Salomons G, Lukacs Z, Struys E, van der Knaap M, Ullrich K, et al.
J Inherit Metab Dis
. 2014 Apr;
37(5):775-81.
PMID: 24687295
Combined D,L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182) is a rare neurometabolic disorder clinically characterized by muscular hypotonia, severe neurodevelopmental dysfunction, and intractable seizures associated with respiratory distress. Biochemically, DL-2HGA patients excrete...