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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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Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2297-2316

2020

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Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Genetics in Medicine Open, 2024, Vol.2, p.100843, Article 100843

2024

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P233: Health-related quality of life in achondroplasia: Findings from LISA, a multinational and observational study in Latin America

Genetics in Medicine Open, 2023, Vol.1 (1), p.100261, Article 100261

2023

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.56-56, Article 56

2023

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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.4-4, Article 4

2022

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Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.339-355

2013

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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63646-n/a

2024

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Singlet and Triplet Excited States of Emissive, Conjugated Bis(porphyrin) Compounds Probed by Optical and EPR Spectroscopic Methods

Journal of the American Chemical Society, 2000-07, Vol.122 (29), p.7017-7033

2000

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Burden and Treatment of Achondroplasia: A Systematic Literature Review

Advances in therapy, 2023-09, Vol.40 (9), p.3639-3680

2023

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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

Journal of child neurology, 2021-05, Vol.36 (6), p.468-474

2021

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Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1891-n/a

2022

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Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.253-18, Article 253

2021

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Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.310-318

2016

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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Skeletal radiology, 2014-03, Vol.43 (3), p.359-369

2014

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Recombinant, truncated B. circulans keratanase-II: Description and characterisation of a novel enzyme for use in measuring urinary keratan sulphate levels via LC–MS/MS in Morquio A syndrome

Clinical biochemistry, 2015-08, Vol.48 (12), p.796-802

2015

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Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.277-287

2014

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Recommendations for the use of sapropterin in phenylketonuria

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.269-276

2012

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Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Molecular genetics and metabolism, 2021-04, Vol.132, p.S112

2021

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eP170 - Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Molecular genetics and metabolism, 2021-04, Vol.132, p.S112-S112

2021

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Orthopedic management of the extremities in patients with Morquio A syndrome

Journal of children's orthopaedics, 2014-08, Vol.8 (4), p.295-304

2014

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Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

Frontiers in bioscience, 2017-01, Vol.22 (3), p.385-406, Article 4490

2017

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Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies

Molecular genetics and metabolism, 2021-04, Vol.132, p.S93

2021

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eP140 - Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies

Molecular genetics and metabolism, 2021-04, Vol.132, p.S93-S93

2021

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

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

P233: Health-related quality of life in achondroplasia: Findings from LISA, a multinational and observational study in Latin America

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Management strategies for CLN2 disease

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

Singlet and Triplet Excited States of Emissive, Conjugated Bis(porphyrin) Compounds Probed by Optical and EPR Spectroscopic Methods

Burden and Treatment of Achondroplasia: A Systematic Literature Review

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

Experiences of children and adolescents living with achondroplasia and their caregivers

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Recombinant, truncated B. circulans keratanase-II: Description and characterisation of a novel enzyme for use in measuring urinary keratan sulphate levels via LC–MS/MS in Morquio A syndrome

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Recommendations for the use of sapropterin in phenylketonuria

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

eP170 - Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Orthopedic management of the extremities in patients with Morquio A syndrome

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies

eP140 - Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies

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