scholarly journals A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in CLCN7 gene

2021 ◽  
Author(s):  
Isik Odaman Al
Keyword(s):  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

2013 ◽  
Vol 81 (9) ◽  
pp. 969-970 ◽  
Author(s):  
Sirisha Rani Siddaiahgari ◽  
Darshak Makadia ◽  
Nikit Shah ◽  
Radha Rama Devi ◽  
Lokesh Lingappa
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

2010 ◽  
Vol 29 (2) ◽  
pp. 251-256 ◽  
Author(s):  
Ping Yuan ◽  
Zhihui Yue ◽  
Liangzhong Sun ◽  
Weijun Huang ◽  
Bin Hu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Clinical Pictures ◽  
Infantile Malignant Osteopetrosis

scholarly journals Osteopetro-Rickets: A Rare Paradoxical Association in an Infant

2012 ◽  
Vol 32 (1) ◽  
pp. 88-89
Author(s):  
MB Patil
Keyword(s):  
Case Report ◽  
Key Words ◽  
Bone Disease ◽  
Clinical Signs ◽  
Severe Anaemia ◽  
Management Options ◽  
Positive Balance ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis ◽  
Key Words Osteopetrosis

Infantile malignant osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Osteopetro-rickets is a very rare paradoxical association of infantile osteopetrosis and rickets. This is a case report of an infant with osteopetro- rickets. He presented with severe anaemia, splenomegaly, hepatomegaly and clinical signs of rickets. The clinical, biochemical and skeletal survey showed osteopetrosis and rickets. We also describe the pathophysiologic mechanism and various management options. Key words: Osteopetrosis; Osteopetro-rickets; Rickets DOI: http://dx.doi.org/10.3126/jnps.v32i1.5292 J. Nepal Paediatr. Soc. Vol.32(1) 2012 88-89

Infantile Malignant Osteopetrosis Presenting as Bilateral Choanal Atresia: Report of Two Cases

1993 ◽  
Vol 13 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Saleh M. Al-Mofada ◽  
Awad H. Mahdi ◽  
Edathoot Vijaykumar ◽  
Julius B. Familusi
Keyword(s):  
Choanal Atresia ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis

Bone ◽  
2013 ◽  
Vol 57 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Ilana Moscatelli ◽  
Christian Schneider Thudium ◽  
Carmen Flores ◽  
Ansgar Schulz ◽  
Maria Askmyr ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Peripheral Blood ◽  
Peripheral Blood Cd34 ◽  
Cd34 Cells ◽  
Malignant Osteopetrosis ◽  
Osteoclast Function ◽  
Infantile Malignant Osteopetrosis
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