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Meeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022

Bone, 2022-12, Vol.165, p.116574-116574, Article 116574

2022

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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Bone (New York, N.Y.), 2021-05, Vol.146, p.115872-115872, Article 115872

2021

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Management of primary and secondary osteoporosis in children

Therapeutic Advances in Musculoskeletal Disease, 2020, Vol.12, p.1759720-1759720X20969262

2020

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Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia

British journal of neurosurgery, 2023-06, Vol.37 (3), p.409-412

2023

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Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019

Bone, 2019-10, Vol.127, p.499-502

2019

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The functional muscle–bone unit in patients with osteogenesis imperfecta type I

Bone (New York, N.Y.), 2015-10, Vol.79, p.52-57

2015

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Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

The journal of clinical endocrinology and metabolism, 2014-02, Vol.99 (2), p.E356-E362

2014

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Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.211-211, Article 211

2023

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The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets

The journal of clinical endocrinology and metabolism, 2013-05, Vol.98 (5), p.E990-E995

2013

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Short report: craniosynostosis, a late complication of nutritional rickets

Journal of pediatric endocrinology & metabolism : JPEM, 2021-08, Vol.34 (8), p.1055

2021

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Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.73-82

2021

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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

BMC medical genomics, 2021-06, Vol.14 (1), p.148-14, Article 148

2021

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Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

The journal of clinical endocrinology and metabolism, 2013-05, Vol.98 (5), p.E954-E961

2013

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Osteogenesis Imperfecta: Update on presentation and management

Reviews in endocrine & metabolic disorders, 2008-06, Vol.9 (2), p.153-160

2008

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Growth reference charts for children with hypochondroplasia

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.243-252

2024

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Natural History of Hyperplastic Callus Formation in Osteogenesis Imperfecta Type V

Journal of bone and mineral research, 2007-08, Vol.22 (8), p.1181-1186

2007

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Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1681-1687

2010

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Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Journal of bone and mineral research, 2011-02, Vol.26 (2), p.405-413

2011

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Tooth Extraction Socket Healing in Pediatric Patients Treated with Intravenous Pamidronate

The Journal of pediatrics, 2008-11, Vol.153 (5), p.719-720

2008

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MO803THE UTILITY OF BONE HEALTH INDEX SDS SCORES IN MEASURING BONE DENSITY IN CHILDREN WITH END STAGE KIDNEY DISEASE

Nephrology, dialysis, transplantation, 2021-05, Vol.36 (Supplement_1)

2021

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Mice Lacking the Calcineurin Inhibitor Rcan2 Have an Isolated Defect of Osteoblast Function

Endocrinology (Philadelphia), 2012-07, Vol.153 (7), p.3537-3548

2012

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Large Osteoclasts in Pediatric Osteogenesis Imperfecta Patients Receiving Intravenous Pamidronate

Journal of bone and mineral research, 2009-04, Vol.24 (4), p.669-674

2009

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Drugs Used in Paediatric Bone and Calcium Disorders

Endocrine development, 2015, Vol.28, p.277

Cheung, Moira S

2015

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Simultaneous Kidney and Parathyroid Transplantation in the Management of Genetic Hypoparathyroidism in a Child

Transplantation direct, 2022-04, Vol.8 (4), p.e1284-e1284

2022

Volltextzugriff (PDF)

Intravenous Pamidronate in Osteogenesis Imperfecta Type VII

Calcified tissue international, 2009-03, Vol.84 (3), p.203-209

2009

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Meeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Management of primary and secondary osteoporosis in children

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia

Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019

The functional muscle–bone unit in patients with osteogenesis imperfecta type I

Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

Higher rates of non-skeletal complications and greater healthcare needs in achondroplasia compared to the general UK population: a matched cohort study using the CPRD database

The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets

Short report: craniosynostosis, a late complication of nutritional rickets

Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

Osteogenesis Imperfecta: Update on presentation and management

Growth reference charts for children with hypochondroplasia

Natural History of Hyperplastic Callus Formation in Osteogenesis Imperfecta Type V

Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Tooth Extraction Socket Healing in Pediatric Patients Treated with Intravenous Pamidronate

MO803THE UTILITY OF BONE HEALTH INDEX SDS SCORES IN MEASURING BONE DENSITY IN CHILDREN WITH END STAGE KIDNEY DISEASE

Mice Lacking the Calcineurin Inhibitor Rcan2 Have an Isolated Defect of Osteoblast Function

Large Osteoclasts in Pediatric Osteogenesis Imperfecta Patients Receiving Intravenous Pamidronate

Drugs Used in Paediatric Bone and Calcium Disorders

Simultaneous Kidney and Parathyroid Transplantation in the Management of Genetic Hypoparathyroidism in a Child

Intravenous Pamidronate in Osteogenesis Imperfecta Type VII

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