ARTICLE;
AUTOSOMAL RECESSIVE DISORDER;
BONE ATROPHY;
BONE DENSITY;
BONE MINERAL;
BONE RADIOGRAPHY;
CASE REPORT;
COURSE EVALUATION;
DISEASE EXACERBATION;
DRUG FEVER;
DRUG WITHDRAWAL;
DUAL ENERGY X RAY ABSORPTIOMETRY;
FEMALE;
HEALTH STATUS;
HUMAN;
HYPERCALCEMIA;
INFORMED CONSENT;
MALE;
MEDICAL ASSESSMENT;
MULTIPLE CYCLE TREATMENT;
OSTEOLYSIS;
OSTEOPOROSIS;
PATIENT MONITORING;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
REPEATED DRUG DOSE;
SIBLING;
THERAPY EFFECT;
TORG WINCHESTER SYNDROME;
TREATMENT OUTCOME;
TREATMENT RESPONSE;
ABNORMALITIES, MULTIPLE;
BONE DENSITY;
BONE DENSITY CONSERVATION AGENTS;
BONE DISEASES, DEVELOPMENTAL;
CHILD;
CHILD, PRESCHOOL;
DIPHOSPHONATES;
FEMALE;
HAND DEFORMITIES;
HUMANS;
MALE;
SYNDROME;
TREATMENT OUTCOME;
Al-Aqeel Sewari syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic disorder of matrix metalloproteinase 2 gene
Al-Aqeel AI (2005). Al-Aqeel Sewari syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic disorder of matrix metalloproteinase 2 gene. Saudi Med J 26:24-30.
New form of idiopathic osteolysis: Nodulosis, arthropathy and osteolysis (NAO) syndrome
Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S (2000). New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. Am J Med Genet 93:5-10.
Beneficial effects of biphosphonates during five years of treatment of severe osteogenesis imperfecta
Astrom E, Soderhall S (1998). Beneficial effects of biphosphonates during five years of treatment of severe osteogenesis imperfecta. Acta Paediatr 87:64-68.
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta
Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998). Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339:947-952.
Hardman JG, Limbird LE, editors, New Delhi: McGraw-Hill. pp
Marcus R (2001). Agents affecting calcification and bone turnover. In: Hardman JG, Limbird LE, editors. Goodman and Gillman's the pharmacological basis of therapeutics. New Delhi: McGraw-Hill. pp. 1715-1741.
Mutation in matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
Martignetti JA, Al Aqeel A, Al Sewari W, Boumah CE, Kambouris M, Al Mayouf S, et al. (2001). Mutation in matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet 28:261-265.
Winchester syndrome caused by a homozygous mutation affecting the active matrix metalloproteinase 2
Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga A (2005).Winchester syndrome caused by a homozygous mutation affecting the active matrix metalloproteinase 2. Clin Genet 67:261-277.
