Karl Peter Schlingmann
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Explore the profile of Karl Peter Schlingmann including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
328
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Recent Articles
1.
Klein M, Obermaier M, Mutze H, Wilden S, Rehberg M, Schlingmann K, et al.
Pediatr Nephrol
. 2024 Jun;
39(11):3221-3231.
PMID: 38914781
Background: X-linked hypophosphatemia (XLH) is a rare inherited phosphate-wasting disorder associated with bone and dental complications. Health-related quality of life (HRQoL) is reduced in XLH patients on conventional treatment with...
2.
Ewert A, Rehberg M, Schlingmann K, Hiort O, John-Kroegel U, Metzing O, et al.
J Clin Endocrinol Metab
. 2023 Apr;
108(10):e998-e1006.
PMID: 37097907
Context: Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking. Objective: To assess...
3.
Schigt H, Bald M, van der Eerden B, Gal L, Ilenwabor B, Konrad M, et al.
J Clin Endocrinol Metab
. 2023 Mar;
108(7):e501.
PMID: 36919775
This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147.
4.
Schigt H, Bald M, van der Eerden B, Gal L, Ilenwabor B, Konrad M, et al.
J Clin Endocrinol Metab
. 2023 Mar;
108(9):e754-e768.
PMID: 36916904
Context: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively....
5.
de Baaij J, Bockenhauer D, Claverie-Martin F, Hoenderop J, Hoorn E, Houillier P, et al.
Eur J Nutr
. 2022 Sep;
61(8):4231-4233.
PMID: 36168067
No abstract available.
6.
Schlingmann K
Endocrinol Metab Clin North Am
. 2021 Nov;
50(4):729-742.
PMID: 34774244
Vitamin D metabolism represents a well-integrated, hormonally regulated endocrine unit interlinking calcium and phosphate metabolism. Pathophysiologic processes disturbing vitamin D metabolism comprise classic defects of vitamin D activation and action...
7.
Acar S, Schlingmann K, Nalbantoglu O, Koprulu O, Arslan G, Ozkaya B, et al.
J Pediatr Endocrinol Metab
. 2021 Jul;
34(11):1481-1486.
PMID: 34261199
Objectives: Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the . Most of the identified variants in...
8.
van der Wijst J, Konrad M, Verkaart S, Tkaczyk M, Latta F, Altmuller J, et al.
Nephron
. 2018 May;
139(4):359-366.
PMID: 29791908
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1...
9.
Konig J, Kranz B, Konig S, Schlingmann K, Titieni A, Tonshoff B, et al.
Clin J Am Soc Nephrol
. 2017 Nov;
12(12):1974-1983.
PMID: 29146700
Background And Objectives: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes ( to ) have been identified...
10.
Jones G, Kottler M, Schlingmann K
Endocrinol Metab Clin North Am
. 2017 Oct;
46(4):1095-1117.
PMID: 29080636
Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1α-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D to the hormonal form, 1,25-(OH)D, and the inactivation...