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Shwachman-Diamond syndrome is associated with low-turnover osteoporosisLow density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemiaMultiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasiaAutosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signUniparental disomy in cartilage-hair hypoplasiaMutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsAnti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study.The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.Decreased bone mineral density in adults born with very low birth weight: a cohort study.Maternal vitamin D status affects bone growth in early childhood--a prospective cohort study.Resting energy expenditure in young adults born preterm--the Helsinki study of very low birth weight adults.Infant milk feeding influences adult bone health: a prospective study from birth to 32 years.Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.Impaired bone health in inflammatory bowel disease: a case-control study in 80 pediatric patients.Vitamin D is a major determinant of bone mineral density at school age.Bone health and risk factors of cardiovascular disease--a cross-sectional study in healthy young adultsLong-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study.COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Vitamin D deficiency in children with a chronic illness-seasonal and age-related variations in serum 25-hydroxy Vitamin D concentrations.Total and carboxylated osteocalcin associate with insulin levels in young adults born with normal or very low birth weightCompromised peak bone mass in patients with inflammatory bowel disease--a prospective study.Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).Osteoporosis: from molecular mechanisms to progress in treatment.Incidence and predictors of fractures in children after solid organ transplantation: a 5-year prospective, population-based study.WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.Bisphosphonate treatment in craniofacial fibrous dysplasia--a case report and review of the literature.Vitamin D binding protein genotype is associated with serum 25-hydroxyvitamin D and PTH concentrations, as well as bone health in children and adolescents in Finland.Molecular defects causing skeletal dysplasias.Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Causes, mechanisms and management of paediatric osteoporosis.Caffey disease: new perspectives on old questions.Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis.
P50
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P106
P21
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0000-0002-4547-001X
P569
2000-01-01T00:00:00Z