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Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers‐Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers‐Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
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Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers‐Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Whyte, Michael P ; Kempa, Lydia G ; McAlister, William H ; Zhang, Fan ; Mumm, Steven ; Wenkert, Deborah

Journal of bone and mineral research, 2010-11, Vol.25 (11), p.2515-2526 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis
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Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis

Bono, Francesco ; Rapisarda, Laura ; Bombardieri, Caterina ; Gagliardi, Monica ; Procopio, Radha ; Demonte, Giulio ; Tosto, Federico ; Bruno, Pietro A. ; Gambardella, Antonio ; Annesi, Grazia

Neurological sciences, 2023-04, Vol.44 (4), p.1393-1399 [Periódico revisado por pares]

Cham: Springer International Publishing

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3
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis
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Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis

Whyte, Michael P ; Madson, Katherine L ; Mumm, Steven ; McAlister, William H ; Novack, Deborah V ; Blair, Jo C ; Helliwell, Timothy R ; Stolina, Marina ; Abernethy, Laurence J ; Shaw, Nicholas J

Journal of bone and mineral research, 2014-12, Vol.29 (12), p.2601-2609 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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4
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort
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The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort

Heikoop, David ; Brick, Lauren ; Chitayat, David ; Colaiacovo, Samantha ; Dupuis, Lucie ; Faghfoury, Hanna ; Goobie, Sharan ; Mendoza, Roberto ; Napier, Melanie ; Nowaczyk, Margaret ; Oh, Rachel ; Silver, Josh ; Prasad, Chitra ; Saleh, Maha

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3793-3803 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Sclerostin in Mineralized Matrices and van Buchem Disease
Sclerostin in Mineralized Matrices and van Buchem Disease
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Sclerostin in Mineralized Matrices and van Buchem Disease

van Bezooijen, R.L. ; Bronckers, A.L. ; Gortzak, R.A. ; Hogendoorn, P.C.W. ; van der Wee-Pals, L. ; Balemans, W. ; Oostenbroek, H.J. ; Van Hul, W. ; Hamersma, H. ; Dikkers, F.G. ; Hamdy, N.A.T. ; Papapoulos, S.E. ; Löwik, C.W.G.M.

Journal of dental research, 2009-06, Vol.88 (6), p.569-574 [Periódico revisado por pares]

United States: SAGE Publications

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6
Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
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Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report

Jeong, Changhoon ; Kim, Myungshin ; Yim, Jisook ; Park, Il-Jung ; Lee, Jiwon ; Lee, Jaeyoung

Medicine (Baltimore), 2021-10, Vol.100 (40), p.e27346-e27346 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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7
Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
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Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

Howaldt, Antonia ; Nampoothiri, Sheela ; Quell, Lisa-Marie ; Ozden, Ayse ; Fischer-Zirnsak, Björn ; Collet, Corinne ; de Vernejoul, Marie-Christine ; Doneray, Hakan ; Kayserili, Hülya ; Kornak, Uwe

Bone (New York, N.Y.), 2019-03, Vol.120, p.495-503 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Pycnodysostosis in children and adults
Pycnodysostosis in children and adults
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Pycnodysostosis in children and adults

Hald, Jannie Dahl ; Beck-Nielsen, Signe ; Gregersen, Pernille Axel ; Gjørup, Hans ; Langdahl, Bente

Bone (New York, N.Y.), 2023-04, Vol.169, p.116674-116674, Article 116674 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases
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Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

Teboul-Coré, Stephanie ; Rey-Jouvin, Caroline ; Miquel, Anne ; Vatier, Camille ; Capeau, Jacqueline ; Robert, Jean-Jacques ; Pham, Thao ; Lascols, Olivier ; Berenbaum, Francis ; Laredo, Jean-Denis ; Vigouroux, Corinne ; Sellam, Jérémie

Skeletal radiology, 2016-11, Vol.45 (11), p.1495-1506 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis
A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis
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A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis

Ng, Doreen W., RN, CPNP

Journal of pediatric health care, 2017-07, Vol.31 (4), p.511-516 [Periódico revisado por pares]

United States: Elsevier Inc

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