Results 101 to 110 of about 10,613 (196)

Towards Gene Therapy of Osteopetrosis.

, 2007
The goal in this thesis is development of gene therapy for malignant infantile osteopetrosis (IMO), a rare but severe genetic bone disease. The concept of osteopetrosis implies dysfunction or lack of osteoclasts, the bone resorbing cells in our body ...
Askmyr, Maria
core  

Atlantoaxial rotatory subluxation in a pediatric patient with osteopetrosis following minor trauma: illustrative case. [PDF]

J Neurosurg Case Lessons
Babateen EM, Madkhali AY, Mehrez MA, Aly MM, Alzahrani AJ.   +4 more
europepmc   +1 more source

Persistent Neonatal Hypocalcemia as an Early Clue to TCIRG1-Related Infantile Osteopetrosis in an Infant of a Diabetic Mother: A Case Report. [PDF]

Cureus
Alshehri SD, Alkudaysi FM, Alhasani T, Alghanmi A, Albariqi MA.   +4 more
europepmc   +1 more source

Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study. [PDF]

Front Endocrinol (Lausanne)
Gök E, Sarıkaya E, Kara L, Berber U, Şiraz ÜG, Özcan A, Yılmaz E, Ünal E, Karakükcü M, Hatipoğlu N.   +9 more
europepmc   +1 more source

Unique presentation of immune thrombocytopenic purpura in adult osteopetrosis: A case report. [PDF]

Radiol Case Rep
Johns S, Fair J, Pantel AR, Anderson TM.
europepmc   +1 more source

Neonatal hypocalcemia and hydrocephalus as early manifestations of intermediate osteopetrosis: successful hematopoietic stem cell transplantation despite negative genetic testing: a case report. [PDF]

Front Endocrinol (Lausanne)
Figà L, Franzone D, Faraci M, Pierri F, Pestarino S, Amico G, Faravelli F, Piatelli G, Allegri AEM, Maghnie M, Napoli F, di Iorgi N.   +11 more
europepmc   +1 more source

Osteopetrosis. Reporte de un caso

, 2017
La osteopetrosis es una rara y compleja enfermedad hereditaria ósea, caracterizada por la alteración de la resorción ósea debido a una deficiente función o pobre desarrollo de osteoclastos, produciendo un hueso altamente calcificado, pero con mayor ...
Maldonado Martínez, Mercy, Jácome Pinela, Jonathan, Valarezo Maldonado, Mercy, Barzallo Ochoa, Diana   +3 more
core  

A Novel Homozygous T-Cell Immune Regulator 1 (TCIRG1) Stop-Gain Variant Causing Malignant Infantile Osteopetrosis. [PDF]

Cureus
Baaziz A, Mdaghri Alaoui A.
europepmc   +1 more source

Serial drilling technique for sequential subtrochanteric femur fracture fixation in pediatric osteopetrosis: a technical report. [PDF]

OTA Int
Mansour A, Wolf JJ, Slyepkan I, Turnow M, Anderson M, Wing A, Iandoli J, Goubeaux C, Smith C, Kadado A.   +9 more
europepmc   +1 more source

Clinical and Molecular Characterization of <i>TCIRG1</i>-Related Autosomal Recessive Osteopetrosis with Current Therapeutic Approaches. [PDF]

Biomedicines
Nagieva SE, Smirnikhina SA.
europepmc   +1 more source