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Lothar Seefried

Explore the profile of Lothar Seefried including associated specialties, affiliations and a list of published articles. Areas
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Articles 60
Citations 789
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Recent Articles
1.
Kollikowski A, Schallock M, Ringeisen R, Hasenclever D, Seefried L, Grunz J, et al.
Support Care Cancer . 2025 Feb; 33(3):235. PMID: 40019520
Purpose: Patients with multiple myeloma (MM) develop osteolytic lesions with fractures, pain, and impaired quality of life. Preclinical data show an anabolic effect of loading exercise in osteolytic lesions of...
2.
Kishnani P, Seefried L, Dahir K, Martos-Moreno G, Hogler W, Greenberg C, et al.
J Med Genet . 2025 Feb; PMID: 39965917
Background: Hypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of variants resulting in low alkaline phosphatase activity. The objective of this analysis was to...
3.
Haffner D, Emma F, Seefried L, Hogler W, Javaid K, Bockenhauer D, et al.
Nat Rev Nephrol . 2025 Feb; PMID: 39905262
No abstract available.
4.
Seefried L, Aliberti F, Heier C, Arango-Sancho P, Biosse Duplan M, Sakka S, et al.
Orphanet J Rare Dis . 2025 Feb; 19(Suppl 2):497. PMID: 39901153
No abstract available.
5.
Hogler W, Seefried L
J Bone Miner Res . 2025 Feb; PMID: 39893631
No abstract available.
6.
Haffner D, Emma F, Seefried L, Hogler W, Javaid K, Bockenhauer D, et al.
Nat Rev Nephrol . 2025 Jan; PMID: 39814982
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by...
7.
Seefried L
Arch Pediatr . 2024 Sep; 31(4S1):4S33-4S36. PMID: 39343472
While the clinical consequences of severe ENPP1 deficiency leading to the rare disorders generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are well defined...
8.
Seefried L, Petryk A, Del Angel G, Reder F, Bauer P
Mol Biol Rep . 2024 Sep; 51(1):984. PMID: 39276275
Background: Hypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants...
9.
Kishnani P, Seefried L, Dahir K, Martos-Moreno G, Linglart A, Petryk A, et al.
Am J Med Genet A . 2024 Jun; 194(11):e63781. PMID: 38884565
Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue-nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL variants from the observational, prospective, multinational Global...
10.
Khan A, Brandi M, Rush E, Ali D, Al-Alwani H, Almonaei K, et al.
Osteoporos Int . 2024 Mar; 35(5):933-934. PMID: 38498158
No abstract available.