O Makitie

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. doi request reprint Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study
    O Makitie
    Division of Pediatric Endocrinology and Metabolic Bone Diseases, Children s Hospital, Helsinki University Central Hospital, University of Helsinki, PO Box 281, FIN 00029 Helsinki, Finland
    Eur J Endocrinol 168:281-8. 2013
  2. doi request reprint Causes, mechanisms and management of paediatric osteoporosis
    Outi Makitie
    Children s Hospital, Helsinki University Central Hospital, University of Helsinki, and Folkhälsan Research Center, P O Box 281, FIN 00029, Helsinki, Finland
    Nat Rev Rheumatol 9:465-75. 2013
  3. doi request reprint High-dose vitamin d intervention in infants--effects on vitamin d status, calcium homeostasis, and bone strength
    Elisa Holmlund-Suila
    Pediatric Endocrinology and Metabolic Bone Diseases, Children s Hospital, Helsinki University Central Hospital and University of Helsinki, P O Box 281, FIN 00029 HUS, Helsinki, Finland
    J Clin Endocrinol Metab 97:4139-47. 2012
  4. pmc Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Med Genet 13:26. 2012
  5. doi request reprint Molecular defects causing skeletal dysplasias
    Outi Makitie
    Hospital for Children and Adolescents, Pediatric Endocrinology and Metabolic Bone Diseases, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
    Endocr Dev 21:78-84. 2011
  6. ncbi request reprint Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults
    O Makitie
    The Hospital for Children and Adolescents, Paediatric Endocrinology, University of Helsinki, Helsinki, Finland
    Clin Endocrinol (Oxf) 64:489-94. 2006
  7. ncbi request reprint Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
    O Makitie
    Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8
    J Clin Endocrinol Metab 88:3591-7. 2003
  8. ncbi request reprint Osteoporosis: from molecular mechanisms to progress in treatment
    Outi Makitie
    Hospital for Children and Adolescents, University of Helsinki, Finland
    Ann Med 37:276-7. 2005
  9. doi request reprint Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains
    Outi Makitie
    Department of Pediatrics, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Orthop Res 28:1497-501. 2010
  10. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004

Collaborators

Detail Information

Publications61

  1. doi request reprint Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study
    O Makitie
    Division of Pediatric Endocrinology and Metabolic Bone Diseases, Children s Hospital, Helsinki University Central Hospital, University of Helsinki, PO Box 281, FIN 00029 Helsinki, Finland
    Eur J Endocrinol 168:281-8. 2013
    ..We evaluated skeletal characteristics and their association with ALL therapy in long-term male ALL survivors...
  2. doi request reprint Causes, mechanisms and management of paediatric osteoporosis
    Outi Makitie
    Children s Hospital, Helsinki University Central Hospital, University of Helsinki, and Folkhälsan Research Center, P O Box 281, FIN 00029, Helsinki, Finland
    Nat Rev Rheumatol 9:465-75. 2013
    ..Consequently, it is important to understand the potential skeletal effects of paediatric illnesses and their therapies in order to institute effective and timely prevention of skeletal complications. ..
  3. doi request reprint High-dose vitamin d intervention in infants--effects on vitamin d status, calcium homeostasis, and bone strength
    Elisa Holmlund-Suila
    Pediatric Endocrinology and Metabolic Bone Diseases, Children s Hospital, Helsinki University Central Hospital and University of Helsinki, P O Box 281, FIN 00029 HUS, Helsinki, Finland
    J Clin Endocrinol Metab 97:4139-47. 2012
    ..Guidelines in Finland recommend 10 μg of vitamin D3 daily for all infants. Recent observations suggest that this may be insufficient to maintain optimal serum 25-hydroxyvitamin D (S-25-OHD)...
  4. pmc Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Med Genet 13:26. 2012
    ..We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and the role of LRP5 is further investigated here...
  5. doi request reprint Molecular defects causing skeletal dysplasias
    Outi Makitie
    Hospital for Children and Adolescents, Pediatric Endocrinology and Metabolic Bone Diseases, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
    Endocr Dev 21:78-84. 2011
    ..On the other hand, mutations in different genes can result in similar phenotypes. Careful clinical assessment with thorough radiographic evaluation are of key importance...
  6. ncbi request reprint Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults
    O Makitie
    The Hospital for Children and Adolescents, Paediatric Endocrinology, University of Helsinki, Helsinki, Finland
    Clin Endocrinol (Oxf) 64:489-94. 2006
    ..The resulting endocrinopathies and their treatment may impact bone health. The purpose of our study was to assess bone health and its correlates in adult patients with APECED...
  7. ncbi request reprint Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
    O Makitie
    Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8
    J Clin Endocrinol Metab 88:3591-7. 2003
    ..These data suggest that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development...
  8. ncbi request reprint Osteoporosis: from molecular mechanisms to progress in treatment
    Outi Makitie
    Hospital for Children and Adolescents, University of Helsinki, Finland
    Ann Med 37:276-7. 2005
  9. doi request reprint Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains
    Outi Makitie
    Department of Pediatrics, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Orthop Res 28:1497-501. 2010
    ..We speculate that complete loss of mutant transcripts yields COL10A1 haploinsufficiency and late clinical presentation while incomplete loss of mutant transcripts yields dominant-negative effects with early clinical presentation...
  10. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004
    ..Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum...
  11. ncbi request reprint Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
    O Makitie
    Programmes in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
    Clin Genet 65:101-12. 2004
    ..The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age. No phenotype-genotype correlation was observed...
  12. ncbi request reprint Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
    Outi Makitie
    Center for the Study of Heritable Connective Tissue Diseases, Research Institute, University of Toronto, Toronto, Ontario M5G 1X8, Canada
    Am J Med Genet A 122:187-92. 2003
    ..Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family...
  13. pmc Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
    Outi Makitie
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Bone Miner Res 25:2165-74. 2010
    ..The skeletal phenotype in ARHP may be significantly more severe than in other forms of hypophosphatemic rickets...
  14. ncbi request reprint Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia
    O M Mäkitie
    Hospital for Children and Adolescents, University of Helsinki, Finland
    Ann Med 33:201-5. 2001
    ..These features may result from a generalized defect in cell proliferation...
  15. doi request reprint Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets
    Outi Makitie
    Hospital for Children and Adolescents, Pediatric Endocrinology and Metabolic Bone Clinic, Helsinki University Hospital, Helsinki, Finland
    Horm Res 69:212-20. 2008
    ..GH may improve phosphate balance and height in X-linked hypophosphatemic rickets (XLH). This study evaluated the impact of exclusive rhGH therapy on phosphate homeostasis and growth...
  16. ncbi request reprint Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients
    Outi Makitie
    Division of Genetics and Genomic Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 137:241-8. 2005
    ..Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought...
  17. pmc Maternal vitamin D status affects bone growth in early childhood--a prospective cohort study
    H T Viljakainen
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Tukholmankatu 2C, PO Box 705, 00029 Helsinki, Finland
    Osteoporos Int 22:883-91. 2011
    ..Postnatal vitamin D supplementation improved vitamin D status but only partly eliminated the differences in bone variables induced by maternal vitamin D status during the fetal period...
  18. doi request reprint Hypercalciuria and kidney function in children with haemophilia
    S Ranta
    Children s Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Haemophilia 19:200-5. 2013
    ..Whether childhood-onset intermittent hypercalciuria contributes to hypertension and renal complications in adulthood remains to be elucidated in future studies...
  19. ncbi request reprint Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system
    O Makitie
    Hospital for Children and Adolescents, Helsinki, Finland
    J Clin Endocrinol Metab 85:563-8. 2000
    ..We conclude that body growth and erythropoiesis share common regulators. One of these is the GH-IGF-I axis; other factors, as not yet identified, may also be important...
  20. ncbi request reprint Uniparental disomy in cartilage-hair hypoplasia
    T Sulisalo
    Department of Medical Genetics, University of Helsinki, Finland
    Eur J Hum Genet 5:35-42. 1997
    ..These observations show that UPD may occur in an unexpectedly high number of the patients and should be taken into account in the genetic counselling and prenatal diagnostics of CHH families...
  21. doi request reprint Maternal vitamin D status determines bone variables in the newborn
    H T Viljakainen
    Department of Applied Chemistry and Microbiology, Division of Nutrition, P O Box 66, University of Helsinki, FI 00014 Helsinki, Finland
    J Clin Endocrinol Metab 95:1749-57. 2010
    ..Maternal vitamin D status may program neonatal skeletal development. The objective here was to determine the association of mothers' vitamin D status with bone variables of their newborns...
  22. ncbi request reprint Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis
    Outi Makitie
    The Hospital for Sick Children, Department of Endocrinology, University of Toronto, ON, Canada
    J Pediatr 146:395-401. 2005
    ..To assess the value of spinal radiographs in determining the significance of reductions in bone mass or density in chronically ill children...
  23. ncbi request reprint Scoliosis after solid organ transplantation in children and adolescents
    I Helenius
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
    Am J Transplant 6:324-30. 2006
    ..The risk of scoliosis is increased in patients with solid organ transplantation. Pediatricians treating these patients should be aware of this increased risk to diagnose early curves and to refer these patients to an orthopedic surgeon...
  24. doi request reprint Decreasing incidence and changing pattern of childhood fractures: A population-based study
    Mervi K Mäyränpää
    Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Bone Miner Res 25:2752-9. 2010
    ..Concurrently, the incidence of forearm and upper arm fractures has increased by one-third. The reasons for these epidemiologic changes remain to be elucidated in future studies...
  25. doi request reprint Dual effect of adipose tissue on bone health during growth
    Heli T Viljakainen
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Biomedicum Helsinki 2, Tukholmankatu 8 C, PO Box 705, 00029 HUS, Helsinki, Finland
    Bone 48:212-7. 2011
    ..These findings suggest that normal body fat content is beneficial for bone health in growing children and adolescents while both low and high body fat content have adverse skeletal effects...
  26. pmc Decreased bone mineral density in adults born with very low birth weight: a cohort study
    Petteri Hovi
    Hospital for Children and Adolescents, Institute of Clinical Medicine, University of Helsinki, Helsinki, Finland
    PLoS Med 6:e1000135. 2009
    ..We hypothesized that VLBW is associated with reduced bone mineral density (BMD) in adulthood...
  27. doi request reprint Bisphosphonate treatment in craniofacial fibrous dysplasia--a case report and review of the literature
    Antti A Makitie
    Department of Otolaryngology Head and Neck Surgery, Helsinki University Hospital, P O Box 220, 00029 Helsinki, Finland
    Clin Rheumatol 27:809-12. 2008
    ..This line of treatment may be suitable especially for craniofacial FD in which surgical treatment is particularly challenging...
  28. doi request reprint Reduced body size and shape-related symptoms in young adults born preterm with very low birth weight: Helsinki study of very low birth weight adults
    Karoliina Wehkalampi
    Department of Health Promotion and Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland
    J Pediatr 157:421-7, 427.e1. 2010
    ....
  29. ncbi request reprint Glucose regulation in young adults with very low birth weight
    Petteri Hovi
    Department of Health Promotion and Chronic Disease Prevention, National Public Health Institute, Helsinki, Finland
    N Engl J Med 356:2053-63. 2007
    ..We assessed glucose tolerance and insulin sensitivity and measured serum lipid levels and blood pressure in young adults with very low birth weight...
  30. ncbi request reprint Incidence and predictors of fractures in children after solid organ transplantation: a 5-year prospective, population-based study
    Ilkka Helenius
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
    J Bone Miner Res 21:380-7. 2006
    ..35 fractures/1000 persons/year; p < 0.001) in the study group compared with the control population. Thus, screening of vertebral fractures at regular intervals is recommended, and preventive strategies should be studied...
  31. ncbi request reprint Bone densitometry in the diagnosis of vertebral fractures in children: accuracy of vertebral fracture assessment
    Mervi K Mäyränpää
    Department of Pediatric Surgery, Helsinki University Hospital, Finland
    Bone 41:353-9. 2007
    ..It is unknown whether the method could be used in pediatrics. This study evaluated the diagnostic accuracy of DXA images in vertebral fracture assessment (VFA) in children...
  32. pmc Increased mortality in cartilage-hair hypoplasia
    O Makitie
    Hospital for Children and Adolescents, Helsinki University Hospital
    Arch Dis Child 84:65-67. 2001
    ..Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality...
  33. ncbi request reprint Bone health in children and adolescents after allogeneic stem cell transplantation: high prevalence of vertebral compression fractures
    Mervi Taskinen
    Division of Hematology Oncology and Stem Cell Transplantation, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Cancer 110:442-51. 2007
    ..This cross-sectional study evaluated the overall bone health and the prevalence of vertebral complications after stem cell transplantation (SCT) in prepubertal children and adolescents...
  34. doi request reprint Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene
    Sanna Toiviainen-Salo
    Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland
    J Pediatr 152:434-6. 2008
    ..The findings suggest that patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern...
  35. doi request reprint Peripheral quantitative computed tomography (pQCT) reveals alterations in the three-dimensional bone structure in children with haemophilia
    S Ranta
    Children s Hospital, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Haemophilia 18:955-61. 2012
    ..Importantly, bone strength at the radius appears equal to healthy children. Prophylactic treatment seems to have a beneficial effect on bone health...
  36. ncbi request reprint Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
    Outi Makitie
    Hospital for Children and Adolescents and the Department of Clinical Genetics, University of Helsinki, Helsinki, Finland
    J Pediatr Surg 37:1585-8. 2002
    ..Cartilage-hair hypoplasia (CHH) is a chondrodysplasia with growth failure, impaired immunity, and high incidence of Hirschsprung disease (HD). This study describes the outcome of CHH patients with HD...
  37. ncbi request reprint Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
    Jonas Bondestam
    Department of Pediatrics, Hospital for Children and Adolescents, P O Box 281, 00029 Helsinki, Finland
    Clin Rheumatol 26:1773-7. 2007
    ..To our knowledge, this is the first time bone biopsy and bone mineral densitometry studies have been performed and bisphosphonate treatment evaluated in a child with CED...
  38. ncbi request reprint Shwachman-Diamond syndrome is associated with low-turnover osteoporosis
    Sanna Toiviainen-Salo
    Helsinki Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland
    Bone 41:965-72. 2007
    ..A skeletal dysplasia is also an integral feature of SDS. The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene...
  39. doi request reprint Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children
    Anne Saarinen
    Folkhalsan Institute of Genetics, Helsinki, Finland Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Bone 46:940-5. 2010
    ..This study evaluated whether LRP5 variation is implicated in childhood fractures...
  40. ncbi request reprint Osteoporosis in chronically ill children
    Etienne B Sochett
    The Hospital for Sick Children, Division of Endocrinology, University of Toronto, Canada
    Ann Med 37:286-94. 2005
    ..Early identification and adequate intervention, in selected cases with bisphosphonates, is needed in order to prevent deleterious skeletal complications of osteoporosis in chronically ill children...
  41. doi request reprint Bone health in children and adolescents after renal transplantation
    Helena Valta
    Hospital for Children and Adolescents, Department of Pediatric Nephrology and Transplantation, University of Helsinki, Helsinki, Finland
    J Bone Miner Res 24:1699-708. 2009
    ..The observed BMD results were satisfactory. However, the high (8%) prevalence of vertebral fractures warrants careful evaluation of bone health in these patients...
  42. doi request reprint Bone health in patients with cloacal exstrophy and persistent cloaca after bladder augmentation
    Seppo Taskinen
    Division of Surgery, Hospital for Children and Adolescents, Helsinki University Hospital, 00290 Helsinki, Finland
    J Pediatr Surg 43:700-4. 2008
    ..In this study, the prevalence of osteoporosis was evaluated in patients operated on for cloacal exstrophy or persistent cloaca and who had undergone bladder augmentation...
  43. doi request reprint Impact of aromatase inhibitor therapy on bone turnover, cortical bone growth and vertebral morphology in pre- and peripubertal boys with idiopathic short stature
    Matti Hero
    Pediatric Endocrinology and Metabolic Bone Diseases, Hospital for Children and Adolescents, University of Helsinki, Tukholmankatu 8 A, 5th Floor, PO Box 448, HUS Helsinki FIN 00029, Finland
    Horm Res 71:290-7. 2009
    ..70). Aromatase inhibition suppresses bone turnover, possibly through an androgen-mediated effect. In pubertal boys, treatment stimulates cortical bone growth by increasing the testosterone-to-estradiol ratio...
  44. doi request reprint Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children
    M Hero
    Childrens Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
    Bone 52:347-53. 2013
    ..TNF-α modulator treatment thus does not appear to provide sufficient amelioration for patients suffering from cherubism...
  45. doi request reprint The effect of oral glucose tolerance test on serum osteocalcin and bone turnover markers in young adults
    P M Paldánius
    Children s Hospital, University of Helsinki and Helsinki University Central Hospital, Finland
    Calcif Tissue Int 90:90-5. 2012
    ..The observed OGTT-induced changes in bone-derived proteins were partially independent of each other and potentially mediated by different mechanisms...
  46. ncbi request reprint Hirschsprung disease associated with severe cartilage-hair hypoplasia
    O Makitie
    Hospital for Children and Adolescents, Helsinki University Hospital, PO Box 281, Helsinki, FIN 00029, Finland
    J Pediatr 138:929-31. 2001
    ....
  47. ncbi request reprint Impaired bone health in adolescents after liver transplantation
    H Valta
    Department of Pediatric Nephrology and Transplantation, Hospital for Children and Adolescents, University of Helsinki, Finland
    Am J Transplant 8:150-7. 2008
    ..004) and higher LS Z-score (p = 0.005) than older patients. In conclusion, adolescent liver recipients are prone to osteoporosis and prevention should be targeted especially to this age group...
  48. ncbi request reprint Cerebroretinal microangiopathy with calcifications and cysts
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 67:1437-43. 2006
    ....
  49. doi request reprint Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis
    Sanna Toiviainen-Salo
    Helsinki Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland
    J Pediatr 152:422-8. 2008
    ..To assess the prevalence, predictors, and course of bronchiectasis in patients with cartilage-hair hypoplasia...
  50. ncbi request reprint Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis
    Helena Valta
    Hospital for Children and Adolescents, Metabolic Bone Clinic, University of Helsinki, Helsinki, Finland
    J Rheumatol 34:831-6. 2007
    ..To evaluate bone health and growth and their correlates in glucocorticoid (GC)-treated pediatric patients with juvenile idiopathic arthritis (JIA)...
  51. ncbi request reprint Skeletal health after intestinal bladder augmentation: findings in 54 patients
    Seppo Taskinen
    Hospital for Children and Adolescents, Division of Surgery, Helsinki University Hospital, Helsinki, Finland
    BJU Int 100:906-10. 2007
    ..To evaluate the risk of osteopenia in patients after intestinal bladder augmentation...
  52. doi request reprint Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
    Anne Saarinen
    Folkhalsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Clin Endocrinol (Oxf) 72:481-8. 2010
    ..Animal models implicate a role for LRP5 in lipid and glucose homeostasis. The objective was to evaluate metabolic consequences of LRP5 mutations in humans...
  53. ncbi request reprint The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men
    Anne Saarinen
    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Bone 40:1006-12. 2007
    ..Whether this is due to influence on bone mass acquisition or on bone loss thereafter has not been established...
  54. doi request reprint Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma
    Mervi Taskinen
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
    Am J Med Genet A 146:2370-5. 2008
    ..The underlying pathogenetic mechanisms remain to be elucidated in future studies. Careful follow-up, extending beyond pediatric age, is warranted for early diagnosis of malignancies...
  55. doi request reprint Intestinal bladder augmentation at school age has no adverse effects on growth
    Seppo Taskinen
    Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, 00290 Helsinki, Finland
    J Pediatr Urol 4:40-2. 2008
    ..Intestinal bladder augmentation predisposes the patient to many complications. The aim of this study was to determine whether augmentation has an adverse effect on growth...
  56. doi request reprint Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty
    Matti Hero
    Pediatric Endocrinology and Metabolic Bone Diseases, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Bone Miner Res 25:1536-43. 2010
    ..If AIs are used in growth indications, follow-up of vertebral morphology is indicated...
  57. doi request reprint Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities
    Maila Penttinen
    Clinical Genetics Unit, Department of Pediatrics, Turku University Hospital, Turku, Finland
    Am J Med Genet A 149:451-5. 2009
    ..We suggest that these novel findings are also manifestations of GPS...
  58. ncbi request reprint Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate
    Jacqueline T Hecht
    Division of Genetics and Genomic Biology, The Research Institute, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    J Orthop Res 22:759-67. 2004
    ..These results also add to the increasing evidence that PSACH and EDM1 are rER storage diseases and that impaired linear growth and joint erosion are caused by the disruptive effect of massive amounts of COMP within the chondrocytes...
  59. ncbi request reprint Parathyroid gland dysfunction in 22q11.2 deletion syndrome
    Fayza al-Jenaidi
    Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Horm Res 67:117-22. 2007
    ..22q11 deletion syndrome (22q11DS) is characterized by conotruncal cardiac defects and hypoplasia of parathyroid glands and thymus, which result in variable hypoparathyroidism (HPT) and immune deficiency...
  60. ncbi request reprint Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient
    Andrea S Doria
    Department of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, Canada
    Pediatr Radiol 32:684-9. 2002
    ..This paper demonstrates the importance of prompt diagnosis and management in neonatal hyperparathyroidism and the role of various imaging modalities in its diagnosis and follow-up...
  61. ncbi request reprint Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene
    Tadej Avcin
    Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Rheumatol 35:920-6. 2008
    ..To evaluate an approach to the clinical, radiographic, and molecular diagnosis of an underlying skeletal dysplasia in adults presenting with early-onset polyarticular osteoarthritis (OA)...