Bone health in patients with inborn errors of metabolism (Q58744635)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

review article

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title

Bone health in patients with inborn errors of metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

main subject

endocrinology

0 references

metabolic bone disease

1 reference

inherited metabolic disorder

22 April 2019

1 reference

22 April 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

C E M Hollak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

language of work or name

English

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publication date

1 March 2018

2 references

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

Reviews in Endocrine and Metabolic Disorders

22 April 2020

published in

2 references

22 April 2019

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22 April 2020

volume

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22 April 2020

issue

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22 April 2020

page(s)

81-92

1 reference

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Creative Commons Attribution 4.0 International

22 April 2020

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on focus list of Wikimedia project

22 April 2019

ScienceSource

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cites work

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30 November 2018

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30 November 2018

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A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

30 November 2018

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

30 November 2018

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Sweet and sour: an update on classic galactosemia.

30 November 2018

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Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

30 November 2018

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Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

30 November 2018

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

30 November 2018

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Asfotase alfa therapy for children with hypophosphatasia

30 November 2018

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Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

30 November 2018

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Types A and B Niemann-Pick Disease

30 November 2018

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30 November 2018

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Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

30 November 2018

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Phenylketonuria: a review of current and future treatments

30 November 2018

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Low bone mineral density is a common finding in patients with homocystinuria.

30 November 2018

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Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

30 November 2018

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Amino Acid Intakes Are Associated With Bone Mineral Density and Prevalence of Low Bone Mass in Women: Evidence From Discordant Monozygotic Twins

30 November 2018

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The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

30 November 2018

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Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

30 November 2018

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Bone health in phenylketonuria: a systematic review and meta-analysis

30 November 2018

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Therapies for the bone in mucopolysaccharidoses

30 November 2018

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Lysinuric Protein Intolerance Presenting with Multiple Fractures.

30 November 2018

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Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

30 November 2018

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Morquio A syndrome: diagnosis and current and future therapies

30 November 2018

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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

30 November 2018

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A systematic review of bone mineral density and fractures in phenylketonuria

30 November 2018

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

30 November 2018

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Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia

30 November 2018

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Inherited disorders of calcium and phosphate metabolism

30 November 2018

1 reference

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Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

30 November 2018

1 reference

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Early initiation of enzyme replacement therapy for the mucopolysaccharidoses

30 November 2018

1 reference

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Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

30 November 2018

1 reference

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Natural history of alpha mannosidosis a longitudinal study

30 November 2018

1 reference

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The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency

30 November 2018

1 reference

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Imaging findings of mucopolysaccharidoses: a pictorial review

30 November 2018

1 reference

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High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study

30 November 2018

1 reference

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Bone mineral density and vitamin D levels in erythropoietic protoporphyria

30 November 2018

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30 November 2018

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Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

30 November 2018

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Skeletal health in adult patients with classic galactosemia

30 November 2018

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Bone mineral density in glycogen storage disease type Ia and Ib.

30 November 2018

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Enzyme-replacement therapy in life-threatening hypophosphatasia.

30 November 2018

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Overview of the mucopolysaccharidoses

30 November 2018

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Miscellaneous non-inflammatory musculoskeletal conditions. Musculoskeletal conditions associated with Wilson's disease

30 November 2018

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Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

30 November 2018

1 reference

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Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

30 November 2018

1 reference

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The adult galactosemic phenotype

30 November 2018

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Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

30 November 2018

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A clinician's guide to X-linked hypophosphatemia

30 November 2018

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Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

30 November 2018

1 reference

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Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

30 November 2018

1 reference

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An overview on bone manifestations in Gaucher disease

30 November 2018

1 reference

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Ovarian function in girls and women with GALT-deficiency galactosemia

30 November 2018

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Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

30 November 2018

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Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients

30 November 2018

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Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

30 November 2018

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Bone tissue and hyperhomocysteinemia

30 November 2018

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Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit

30 November 2018

1 reference

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The mucopolysaccharidoses: a success of molecular medicine.

30 November 2018

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Effect of calcium, vitamins K1 and D3 on bone in galactosemia

30 November 2018

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Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture

30 November 2018

1 reference

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Body composition in young adults with inborn errors of protein metabolism--a pilot study

30 November 2018

1 reference

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Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation

30 November 2018

1 reference

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Destructive joint disease in alpha-mannosidosis. A case report and review of the literature

30 November 2018

1 reference

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Growth restriction in children with type B Niemann-Pick disease

30 November 2018

1 reference

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Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations

30 November 2018

1 reference

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Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

30 November 2018

1 reference

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

30 November 2018

1 reference

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Bone mineralisation in type 1 glycogen storage disease

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

Lysinuric protein intolerance

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6208570

The Radiographic Features of Mannosidosis

30 November 2018

1 reference

12 December 2020

Fetal presentation of Morquio disease type A

1 reference

12 December 2020

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy

1 reference

12 December 2020

1 reference

12 December 2020

Osteoporosis in lysinuric protein intolerance

1 reference

12 December 2020

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study

1 reference

12 December 2020

Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome

1 reference

12 December 2020

Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance

1 reference

12 December 2020

Adult hypophosphatasia treated with teriparatide

1 reference

12 December 2020

Natural history of alkaptonuria revisited: analyses based on scoring systems

1 reference

12 December 2020

Functional capacity evaluation of patients with mucopolysaccharidosis

1 reference

12 December 2020

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review

1 reference

12 December 2020

Bone status and fractures in 85 adults with Wilson's disease

1 reference

12 December 2020

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic

1 reference

12 December 2020

Bone demineralisation in a large cohort of Wilson disease patients

1 reference

12 December 2020

10.1007/S11154-018-9460-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json

22 April 2020

PubMed publication ID

30209646

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30209646%20AND%20SRC:MED&resulttype=core&format=json