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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

International journal of molecular sciences, 2017-02, Vol.18 (2), p.441-441

2017

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Congenital hyperinsulinism: current trends in diagnosis and therapy

Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.63-63, Article 63

2011

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In vivo corneal confocal microscopy revealing Gaucher disease in a child

Canadian journal of ophthalmology, 2024-06, Vol.59 (3), p.e265-e265

2024

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Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

European journal of pediatrics, 2019-04, Vol.178 (4), p.593-603

2019

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Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study

Journal of inherited metabolic disease, 2024-06

2024

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Citrulline in the management of patients with urea cycle disorders

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.207-207, Article 207

2023

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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.204-204, Article 204

2023

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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.507-507, Article 507

2021

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Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.68-68, Article 68

2022

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A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France

The Journal of pediatrics, 2023-03, Vol.254, p.75-82.e4

2023

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Long-term renal outcome in methylmalonic acidemia in adolescents and adults

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.220-220, Article 220

2021

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Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report

Genetics in medicine, 2023-02, Vol.25 (2), p.100328, Article 100328

2023

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Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Journal of clinical medicine, 2022-02, Vol.11 (4), p.920

2022

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Journal of medical genetics, 2017-12, Vol.54 (12), p.843

2017

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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

International journal of molecular sciences, 2020-02, Vol.21 (4), p.1247

2020

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Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

Journal of inherited metabolic disease, 2024-01, Vol.47 (1), p.41-49

2024

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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.881-887

2015

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Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108123-108123, Article 108123

2024

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Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.147-157

2019

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Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.3-3, Article 3

2017

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Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings

Molecular genetics and metabolism, 2023-08, Vol.139 (4), p.107650-107650, Article 107650

2023

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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Bone marrow transplantation (Basingstoke), 2023-03, Vol.58 (3), p.295-302

2023

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Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.215-222

2022

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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.661-672

2016

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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100933-100933, Article 100933

2022

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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

Congenital hyperinsulinism: current trends in diagnosis and therapy

In vivo corneal confocal microscopy revealing Gaucher disease in a child

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study

Citrulline in the management of patients with urea cycle disorders

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey

A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

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