Published in J Rheumatol on March 15, 2008
Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis. Curr Opin Rheumatol (2010) 1.23
Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment. Arthritis Res Ther (2010) 1.20
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Curr Rheumatol Rep (2012) 1.12
Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J (2009) 1.08
Spinal involvement in chronic recurrent multifocal osteomyelitis (CRMO) in childhood and effect of pamidronate. Eur J Pediatr (2010) 1.01
Pamidronate treatment in rheumatology practice: a comprehensive review. Clin Rheumatol (2009) 0.95
Chronic recurrent multifocal osteomyelitis. J Clin Immunol (2013) 0.90
Chronic recurrent multifocal osteomyelitis involving the mandible: case reports and review of the literature. Dentomaxillofac Radiol (2010) 0.86
Autoinflammatory bone diseases. Rheum Dis Clin North Am (2013) 0.84
Bisphosphonate treatment for patients with chronic nonbacterial osteomyelitis. Nat Clin Pract Rheumatol (2008) 0.82
A pilot trial of intravenous pamidronate for chronic low back pain. Pain (2013) 0.80
New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice. Semin Immunopathol (2015) 0.79
The role of IL-1β in the bone loss during rheumatic diseases. Mediators Inflamm (2015) 0.76
Physicians' Perspectives on the Diagnosis and Treatment of Chronic Nonbacterial Osteomyelitis. Int J Rheumatol (2017) 0.75
Primary Chronic Osteomyelitis of the Jaws in Children: An Update on Pathophysiology, Radiological Findings, Treatment Strategies, and Prospective Analysis of Two Cases. Case Rep Dent (2015) 0.75
Syndromes with chronic non-bacterial osteomyelitis in the spine. Reumatologia (2016) 0.75
Chronic nonbacterial osteomyelitis involving the mandible: A case report. Int J Surg Case Rep (2017) 0.75
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis. Curr Rheumatol Rep (2017) 0.75
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet (2010) 3.31
Localized scleroderma in childhood is not just a skin disease. Arthritis Rheum (2005) 2.48
Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02
Systematic review of information and support interventions for caregivers of people with dementia. BMC Geriatr (2007) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab (2003) 1.82
Nocturnal sleep measured by actigraphy in children with Prader-Willi syndrome. J Pediatr (2012) 1.78
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. J Pediatr Orthop (2007) 1.64
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Speaking up about safety concerns: multi-setting qualitative study of patients' views and experiences. Qual Saf Health Care (2010) 1.53
Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab (2009) 1.43
Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol (2011) 1.41
Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol (2012) 1.40
First national audit of the outcomes of care in young people with diabetes in New Zealand: high prevalence of nephropathy in Maori and Pacific Islanders. N Z Med J (2006) 1.28
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A (2009) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
Altered body composition and metabolism in the male offspring of high fat-fed rats. Metabolism (2005) 1.18
Scoping review and approach to appraisal of interventions intended to involve patients in patient safety. J Health Serv Res Policy (2010) 1.18
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
Acute phase response and mineral status following low dose intravenous zoledronic acid in children. Bone (2007) 1.14
Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2007 Pediatric Official Positions. J Clin Densitom (2008) 1.08
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. Pediatrics (2007) 1.02
Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00
Exploring the relationship between fear of falling and neuroticism: a cross-sectional study in community-dwelling women over 70. Age Ageing (2005) 1.00
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet (2010) 1.00
Effect of growth hormone therapy and puberty on bone and body composition in children with idiopathic short stature and growth hormone deficiency. Bone (2005) 1.00
Vascular endothelial and smooth muscle function relates to body mass index and glucose in obese and nonobese children. J Clin Endocrinol Metab (2006) 0.99
The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatr Rheumatol Online J (2009) 0.98
Diverse requirements for Notch signalling in mammals. Int J Dev Biol (2002) 0.97
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med (2005) 0.97
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol (2004) 0.97
The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. Bone (2005) 0.96
Bone mineral content and density in Rett syndrome and their contributing factors. Pediatr Res (2011) 0.96
The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health (2010) 0.95
Sclerotic metaphyseal lines in a child treated with pamidronate: histomorphometric analysis. J Bone Miner Res (2004) 0.93
Consensus statement on standard of care for congenital myopathies. J Child Neurol (2012) 0.92
Folic acid improves endothelial function in children and adolescents with type 1 diabetes. J Pediatr (2004) 0.91
Effect of zoledronic acid in an L6-L7 rabbit spine fusion model. Eur Spine J (2006) 0.89
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat (2012) 0.89
Prediction of appendicular skeletal and fat mass in children: excellent concordance of dual-energy X-ray absorptiometry and magnetic resonance imaging. J Pediatr Endocrinol Metab (2009) 0.88
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab (2006) 0.88
Bisphosphonate rescue in distraction osteogenesis: a case series. J Pediatr Orthop (2007) 0.87
IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A (2012) 0.86
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis (2011) 0.85
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab (2013) 0.85
Folic acid does not improve endothelial function in obese children and adolescents. Diabetes Care (2007) 0.84
Abdominal fat assessment in adolescents using dual-energy X-ray absorptiometry. J Pediatr Endocrinol Metab (2009) 0.83
Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. J Paediatr Child Health (2009) 0.83
Importance of estrogen on bone health in Turner syndrome: a cross-sectional and longitudinal study using dual-energy X-ray absorptiometry. J Clin Endocrinol Metab (2004) 0.83
Bone changes in adolescent girls with anorexia nervosa. J Adolesc Health (2006) 0.83
Zoledronic acid improves bone mineral density in pediatric spinal cord injury. J Bone Miner Res (2012) 0.83
Identifying children at particular risk of long-term diabetes complications. Pediatr Diabetes (2007) 0.82
Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health (2008) 0.82
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health (2011) 0.82
The skeletal phenotype of men with previous constitutional delay of puberty. J Clin Endocrinol Metab (2004) 0.82
Weight loss on stimulant medication: how does it affect body composition and bone metabolism? - A prospective longitudinal study. Int J Pediatr Endocrinol (2012) 0.81
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics (2005) 0.81
Intravenous zoledronic Acid given every 6 months in childhood osteoporosis. Horm Res Paediatr (2013) 0.81
Systemic effects of zoledronic acid in children with traumatic femoral head avascular necrosis and Legg-Calve-Perthes disease. Bone (2009) 0.81
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis (2010) 0.81
Validation of longitudinal DXA changes in body composition from pre- to mid-adolescence using MRI as reference. J Clin Densitom (2011) 0.80
The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. N Z Med J (2007) 0.79
The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health (2013) 0.79
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskelet Disord (2014) 0.79
Funding source and the quality of reports of chronic wounds trials: 2004 to 2011. Trials (2014) 0.79
Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism. J Pediatr (2011) 0.79
Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. Australas J Dermatol (2007) 0.78
Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. J Intellect Dev Disabil (2009) 0.78
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience. JIMD Rep (2011) 0.78
Adiponectin relates to smooth muscle function and folate in obese children. Int J Pediatr Obes (2010) 0.77
The impact of dysglycaemia on bone mineral accrual in young people with cystic fibrosis. Clin Endocrinol (Oxf) (2013) 0.77
Effects of single-leg drop-landing exercise from different heights on skeletal adaptations in prepubertal girls: a randomized controlled study. Pediatr Exerc Sci (2008) 0.77
Upregulation of inward rectifying currents and Fabry disease neuropathy. J Peripher Nerv Syst (2012) 0.77
Postnatal nutrition alters body composition in adult offspring exposed to maternal protein restriction. Br J Nutr (2008) 0.76
Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr (2010) 0.76
Reply: To PMID 23102789. J Pediatr (2013) 0.75
Use of bisphosphonates in children: authors' reply. Aust Dent J (2014) 0.75
Approach to the management of idiopathic hirsutism. Can Fam Physician (2012) 0.75
More Information about Postbaccalaureate PharmD Training. Can J Hosp Pharm (2014) 0.75
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. Am J Med Genet A (2004) 0.75
Cardiac resynchronization therapy and automatic implantable cardiac defibrillators in the treatment of heart failure: a review article. J Am Acad Nurse Pract (2004) 0.75
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. N Z Med J (2012) 0.75
Care for children and adolescents with diabetes in New Zealand District Health Boards: Is the clinical resourcing ready for the challenge? N Z Med J (2015) 0.75
Promoting patient involvement in safety initiatives. Nurs Manag (Harrow) (2011) 0.75
Folate fortification and supplementation do not provide vascular health benefits in type 1 diabetes. J Pediatr (2013) 0.75
Understanding pharmacist success in practice: A scoping review. J Am Pharm Assoc (2003) (2016) 0.75
Effective treatment of hypoglycemia in children with type 1 diabetes: a randomized controlled clinical trial. Pediatr Diabetes (2011) 0.75
Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland. Pediatrics (2012) 0.75
Managing ethically questionable parental requests: growth suppression and manipulation of puberty. J Paediatr Child Health (2011) 0.75
Pet food safety: the roles of government, manufacturers, and veterinarians. Compend Contin Educ Vet (2012) 0.75
Evaluation of methods to assess reduced body fat in patients with anorexia nervosa. J Am Coll Nutr (2013) 0.75
Acute presentation of childhood hypothyroidism. Med J Aust (2005) 0.75