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1.

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter, Thomas O; Whyte, Michael P; Imel, Erik A; Boot, Annemieke M; Högler, Wolfgang; Linglart, Agnès; Padidela, Raja; Van't Hoff, William; Mao, Meng; Chen, Chao-Yin; Skrinar, Alison; Kakkis, Emil; San Martin, Javier; Portale, Anthony A.

N Engl J Med; 378(21): 1987-1998, 2018 05 24.

Artículo en Inglés | MEDLINE | ID: mdl-29791829

2.

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.

Padidela, Raja; Whyte, Michael P; Glorieux, Francis H; Munns, Craig F; Ward, Leanne M; Nilsson, Ola; Portale, Anthony A; Simmons, Jill H; Namba, Noriyuki; Cheong, Hae Il; Pitukcheewanont, Pisit; Sochett, Etienne; Högler, Wolfgang; Muroya, Koji; Tanaka, Hiroyuki; Gottesman, Gary S; Biggin, Andrew; Perwad, Farzana; Williams, Angela; Nixon, Annabel; Sun, Wei; Chen, Angel; Skrinar, Alison; Imel, Erik A.

Calcif Tissue Int; 108(5): 622-633, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33484279

3.

Adult hypophosphatasia treated with reduced frequency of teriparatide dosing.

Polyzos, Stergios A; Tournis, Symeon; Goulas, Antonis; Kollia, Panagoula; Whyte, Michael P.

J Musculoskelet Neuronal Interact; 21(4): 584-589, 2021 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-34854399

4.

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.

Imel, Erik A; Glorieux, Francis H; Whyte, Michael P; Munns, Craig F; Ward, Leanne M; Nilsson, Ola; Simmons, Jill H; Padidela, Raja; Namba, Noriyuki; Cheong, Hae Il; Pitukcheewanont, Pisit; Sochett, Etienne; Högler, Wolfgang; Muroya, Koji; Tanaka, Hiroyuki; Gottesman, Gary S; Biggin, Andrew; Perwad, Farzana; Mao, Meng; Chen, Chao-Yin; Skrinar, Alison; San Martin, Javier; Portale, Anthony A.

Lancet; 393(10189): 2416-2427, 2019 06 15.

Artículo en Inglés | MEDLINE | ID: mdl-31104833

5.

Genetics of Skeletal Disorders.

Hannan, Fadil M; Newey, Paul J; Whyte, Michael P; Thakker, Rajesh V.

Handb Exp Pharmacol; 262: 325-351, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32166388

6.

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.

Whyte, Michael P; Leung, Edward; Wilcox, William R; Liese, Johannes; Argente, Jesús; Martos-Moreno, Gabriel Á; Reeves, Amy; Fujita, Kenji P; Moseley, Scott; Hofmann, Christine.

J Pediatr; 209: 116-124.e4, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30979546

7.

Genetic approaches to metabolic bone diseases.

Hannan, Fadil M; Newey, Paul J; Whyte, Michael P; Thakker, Rajesh V.

Br J Clin Pharmacol; 85(6): 1147-1160, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30357886

8.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan, Fadil M; Howles, Sarah A; Rogers, Angela; Cranston, Treena; Gorvin, Caroline M; Babinsky, Valerie N; Reed, Anita A; Thakker, Clare E; Bockenhauer, Detlef; Brown, Rosalind S; Connell, John M; Cook, Jacqueline; Darzy, Ken; Ehtisham, Sarah; Graham, Una; Hulse, Tony; Hunter, Steven J; Izatt, Louise; Kumar, Dhavendra; McKenna, Malachi J; McKnight, John A; Morrison, Patrick J; Mughal, M Zulf; O'Halloran, Domhnall; Pearce, Simon H; Porteous, Mary E; Rahman, Mushtaqur; Richardson, Tristan; Robinson, Robert; Scheers, Isabelle; Siddique, Haroon; Van't Hoff, William G; Wang, Timothy; Whyte, Michael P; Nesbit, M Andrew; Thakker, Rajesh V.

Hum Mol Genet; 24(18): 5079-92, 2015 Sep 15.

Artículo en Inglés | MEDLINE | ID: mdl-26082470

9.

Alkaline Phosphatase and Hypophosphatasia.

Millán, José Luis; Whyte, Michael P.

Calcif Tissue Int; 98(4): 398-416, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26590809

10.

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Gottesman, Gary S; Madson, Katherine L; McAlister, William H; Nenninger, Angela; Wenkert, Deborah; Mumm, Steven; Whyte, Michael P.

Am J Med Genet A; 170A(4): 978-85, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26762549

11.

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

Camacho, Pauline M; Mazhari, Alaleh M; Wilczynski, Cory; Kadanoff, Ruth; Mumm, Steven; Whyte, Michael P.

Endocr Pract; 22(8): 941-50, 2016 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-27042741

12.

Skeletal fluorosis in a resettled refugee from Kakuma refugee camp.

Fabreau, Gabriel E; Bauman, Paul; Coakley, Annalee L; Johnston, Kelly; Kennel, Kurt A; Gifford, Jessica L; Sadrzadeh, Hossein Mh; Whitford, Gary M; Whyte, Michael P; Kline, Gregory A.

Lancet; 393(10168): 223-225, 2019 01 19.

Artículo en Inglés | MEDLINE | ID: mdl-30663587

13.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Whyte, Michael P; Greenberg, Cheryl R; Salman, Nada J; Bober, Michael B; McAlister, William H; Wenkert, Deborah; Van Sickle, Bradley J; Simmons, Jill H; Edgar, Terence S; Bauer, Martin L; Hamdan, Mohamed A; Bishop, Nick; Lutz, Richard E; McGinn, Mairead; Craig, Stanley; Moore, Jean N; Taylor, John W; Cleveland, Robert H; Cranley, William R; Lim, Ruth; Thacher, Tom D; Mayhew, Jill E; Downs, Matthew; Millán, José Luis; Skrinar, Alison M; Crine, Philippe; Landy, Hal.

N Engl J Med; 366(10): 904-13, 2012 Mar 08.

Artículo en Inglés | MEDLINE | ID: mdl-22397652

14.

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Campeau, Philippe M; Lu, James T; Sule, Gautam; Jiang, Ming-Ming; Bae, Yangjin; Madan, Simran; Högler, Wolfgang; Shaw, Nicholas J; Mumm, Steven; Gibbs, Richard A; Whyte, Michael P; Lee, Brendan H.

Hum Mol Genet; 21(22): 4904-9, 2012 Nov 15.

Artículo en Inglés | MEDLINE | ID: mdl-22875837

15.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Mumm, Steven; Huskey, Margaret; Duan, Shenghui; Wenkert, Deborah; Madson, Katherine L; Gottesman, Gary S; Nenninger, Angela R; Laxer, Ronald M; McAlister, William H; Whyte, Michael P.

Am J Med Genet A; 164A(9): 2287-93, 2014 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-24989131

16.

Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B₆ metabolism.

Whyte, Michael P; Zhang, Fan; Mack, Karen E; Wenkert, Deborah; Gottesman, Gary S; Ericson, Karen L; Cole, Jeffrey T; Coburn, Stephen P.

Bone; 181: 117033, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38307176

17.

Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.

Ward, Leanne M; Högler, Wolfgang; Glorieux, Francis H; Portale, Anthony A; Whyte, Michael P; Munns, Craig F; Nilsson, Ola; Simmons, Jill H; Padidela, Raja; Namba, Noriyuki; Cheong, Hae Il; Sochett, Etienne; Muroya, Koji; Tanaka, Hiroyuki; Pitukcheewanont, Pisit; Gottesman, Gary S; Biggin, Andrew; Perwad, Farzana; Chen, Angel; Lawrence Merritt Ii, John; Imel, Erik A.

JBMR Plus; 8(1): ziad001, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-38690124

18.

Commentary.

Whyte, Michael P.

Clin Chem; 64(4): 643-644, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29592907

19.

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts, Giles D J; Wymer, Jill; Kovach, Margaret J; Mehta, Sarju G; Mumm, Steven; Darvish, Daniel; Pestronk, Alan; Whyte, Michael P; Kimonis, Virginia E.

Nat Genet; 36(4): 377-81, 2004 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-15034582

20.

Carbonic anhydrase II deficiency.