Katherine L Madson
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Explore the profile of Katherine L Madson including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
176
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Recent Articles
1.
Whyte M, McAlister W, Mack K, Mumm S, Madson K
J Bone Miner Res
. 2024 Jun;
39(6):655-660.
PMID: 38905292
Hypophosphatasia (HPP) is the dento-osseous disorder caused by deactivating mutation(s) of ALPL, the gene that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). In HPP, 3 natural substrates of cell-surface...
2.
Whyte M, Aronson J, McAlister W, Weinstein R, Wenkert D, Clements K, et al.
Bone
. 2020 Dec;
145:115835.
PMID: 33360005
In 2003, we briefly reported the remarkable osteopathy of a 12-year-old boy who at age two months began fracturing his limbs with subsequent hyperplastic callus formation and expansion and fusion...
3.
Phillips D, Griffin D, Przybylski T, Morrison E, Reeves A, Vallee M, et al.
J Pediatr Rehabil Med
. 2018 Sep;
11(3):187-192.
PMID: 30223404
Purpose: To modify the Performance-Oriented Mobility Assessment-Gait (POMA-G) subtest and validate this modified POMA-G (mPOMA-G) in children with hypophosphatasia (HPP), a rare metabolic disorder that can manifest with musculoskeletal symptoms...
4.
Smith P, Madson K
Diabetologia
. 2016 Dec;
20(Suppl 1):314-324.
PMID: 27942817
Autonomic nerves and endocrine cells of both the gastrointestinal tract and the pancreatic islets participate in the control of several processes related to the digestion and metabolism of nutrients. While...
5.
Whyte M, Madson K, Phillips D, Reeves A, McAlister W, Yakimoski A, et al.
JCI Insight
. 2016 Oct;
1(9):e85971.
PMID: 27699270
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation...
6.
Gottesman G, Madson K, McAlister W, Nenninger A, Wenkert D, Mumm S, et al.
Am J Med Genet A
. 2016 Jan;
170A(4):978-85.
PMID: 26762549
We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)-deficiency juvenile Paget disease (JPD). AO and auricular calcification refer interchangeably...
7.
Whyte M, Madson K, McAlister W, Mumm S, Novack D, Blair J, et al.
J Bone Miner Res
. 2015 Jul;
30(8):1537.
PMID: 26183677
No abstract available.
8.
Whyte M, Madson K, McAlister W, Mumm S, Novack D, Blair J, et al.
J Bone Miner Res
. 2015 Jan;
30(5):946.
PMID: 25588359
No abstract available.
9.
Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson K, et al.
J Bone Miner Res
. 2014 Jul;
30(1):137-43.
PMID: 25042154
Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively)....
10.
Mumm S, Huskey M, Duan S, Wenkert D, Madson K, Gottesman G, et al.
Am J Med Genet A
. 2014 Jul;
164A(9):2287-93.
PMID: 24989131
Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene...