X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Bot... von Dahir, Kathryn McCrystal, Black, Margo, Gottesman, Gary S, Imel, Erik A, Mumm, Steven, Nichols, Cindy M, Whyte, Michael P

Volltext

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

Volltext

Metabolic Bone Disease: An Overview von Gooch, Catherine, Ekert, Paige, Gottesman, Gary S

Volltext

Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial von Whyte, Michael P, Carpenter, Thomas O, Gottesman, Gary S, Mao, Meng, Skrinar, Alison, San Martin, Javier, Imel, Erik A

Volltext

Marrow Cell Transplantation for Infantile Hypophosphatasia von Whyte, Michael P, Kurtzberg, Joanne, McALISTER, William H, Mumm, Steven, Podgornik, Michelle N, Coburn, Stephen P, Ryan, Lawrence M, Miller, Cindy R, Gottesman, Gary S, Smith, Alan K, Douville, Judy, Waters‐Pick, Barbara, Armstrong, R Douglas, Martin, Paul L

Volltext

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder von Whyte, Michael P., Weinstein, Robert S., Phillips, Paul H., McAlister, William H., Ramakrishnaiah, Raghuhr H., Schaefer, G. Bradley, Cai, Rongsheng, Hutchison, Michele R., Duan, Shenghui, Gottesman, Gary S., Mumm, Steven

Volltext

X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study) von Smith, Pamela S, Gottesman, Gary S, Zhang, Fan, Cook, Fiona, Ramirez, Beatriz, Wenkert, Deborah, Wollberg, Valerie, Huskey, Margaret, Mumm, Steven, Whyte, Michael P

Volltext

Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia von Whyte, Michael P., May, Jennifer D., McAlister, William H., Burgener, Katherine, Cortez, Samuel R., Kreienkamp, Raymond, Castro, Olivia, Verzola, Rachel, Zavala, Ana Solis, McPherson, Christopher C., Gottesman, Gary S., Ericson, Karen L., Coburn, Stephen P., Arbelaez, Ana Maria

Volltext

Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V von Whyte, Michael P., Aronson, James, McAlister, William H., Weinstein, Robert S., Wenkert, Deborah, Clements, Karen L., Gottesman, Gary S., Madson, Katherine L., Stolina, Marina, Bijanki, Vinieth N., Plotkin, Horacio, Huskey, Margaret, Duan, Shenghui, Mumm, Steven

Volltext

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation von Mumm, Steven, Gottesman, Gary S., Wenkert, Deborah, Campeau, Philippe M., Nenninger, Angela, Huskey, Margaret, Bijanki, Vinieth N., Veis, Deborah J., Barnes, Aileen M., Marini, Joan C., Stolina, Marina, Zhang, Fan, McAlister, William H., Whyte, Michael P.

Volltext

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health von Lin, Elizabeth L., Gottesman, Gary S., McAlister, William H., Bijanki, Vinieth N., Mack, Karen E., Griffin, Donna M., Mumm, Steven, Whyte, Michael P.

Volltext

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy von Otero, Jesse E, Gottesman, Gary S, McAlister, William H, Mumm, Steven, Madson, Katherine L, Kiffer‐Moreira, Tina, Sheen, Campbell, Millán, José Luis, Ericson, Karen L, Whyte, Michael P

Volltext

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy von Whyte, Michael P., Ma, Nina S., Mumm, Steven, Gottesman, Gary S., McAlister, William H., Nenninger, Angela R., Bijanki, Vinieth N., Ericson, Karen L., Magnusson, Per

Volltext

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5) von Otaify, Ghada A., Whyte, Michael P., Gottesman, Gary S., McAlister, William H., Eric Gordon, J., Hollander, Abby, Andrews, Marisa V., El-Mofty, Samir K., Chen, Wei-Shen, Veis, Deborah V., Stolina, Marina, Woo, Albert S., Katsonis, Panagiotis, Lichtarge, Olivier, Zhang, Fan, Shinawi, Marwan

Volltext

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25‐Dihydroxyvitamin D‐Mediated Hypercalcemia and Generalized Osteosclerosis von Whyte, Michael P, Lim, Emilina, McAlister, William H, Gottesman, Gary S, Trinh, Lien, Veis, Deborah J, Bijanki, Vinieth N, Boden, Matthew G, Nenninger, Angela, Mumm, Steven, Buchbinder, David

Volltext

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

Volltext

Epimerase-Deficiency Galactosemia Is Not a Binary Condition von Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.

Volltext

Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide von Nishioka, Tatsuo, Tomatsu, Shunji, Gutierrez, Monica A., Miyamoto, Ken-ichi, Trandafirescu, Georgeta G., Lopez, Patricia L.C., Grubb, Jeffrey H., Kanai, Rie, Kobayashi, Hironori, Yamaguchi, Seiji, Gottesman, Gary S., Cahill, Richard, Noguchi, Akihiko, Sly, William S.

Volltext

Acromelia‐oligodontia syndrome von Talasila, Jyothirmai, Pachigolla, Ramaswamy, Yarlagadda, Kiranmai V. S. N., Vuppala, Ramu, Grzeschik, Karl‐Heinz, Kiran K.V.S, Sai, Rose, Catherine M., Gottesman, Gary S., Urban, Zsolt

Volltext

Newborn screening tests in the 21st century: what PAs need to know von DelRosario, Genevieve, Gottesman, Gary S

Volltext