"Pathology" search results...

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

2022-07-08

This study summarizes the genetic and phenotypic "portraits" of 14 patients with Gaucher Disease (GD) type 1 in the Republic of North Macedonia, 4 of Macedonian and 10 of Albanian origin.

ASMD

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic ASMD in adults: Oneyear results

2022-04-26

In individuals with acid sphingomyelinase deficiency (ASMD), olipudase alfa was well tolerated and associated with meaningful and wide-ranging improvements in disease pathology and clinically relevant endpoints compared to placebo.

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

2022-03-09

Careful evaluation of common pediatric presentations, which may be an indication of serious underlying pathologies, is of great importance.

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

2022-03-01

Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement in late onset Pompe disease patients.

MPS

Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study

2021-11-01

Excised corneas of MPS I patients show characteristic epithelial changes, disruption or breaks in Bowman's membrane, and amphophilic collections of stromal granular mucopolysaccharides. These changes should alert the pathologist to the possibility of an underlying lysosomal storage disorder.

ASMD

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

2021-08-23

In this study in children with chronic ASMD, olipudase alfa was generally well-tolerated with significant, comprehensive improvements in disease pathology across a range of clinically relevant endpoints.

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2021-08-01

The goal of this study was to look at ERT-related skeletal muscle alterations as well as the connection between morphological/biochemical changes and clinical outcomes in patients with late-onset Pompe disease (LOPD). In the majority of LOPD patients, ERT improved skeletal muscle pathology, as well as motor and respiratory outcomes.

FABRY

Fabry disease: Genetics, pathology, and treatment

2020-01-13

Genetic analysis in search of mutation for Fabry Disease is the gold standard for diagnosis, in addition to family history. It is considered that specialized treatment should begin as soon as a diagnosis is made, as this can change the disease prognosis.

FABRY

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

2019-03-05

A major challenge in the clinical phenotyping of patients with Fabry disease is the differential diagnosis between its nonspecific cerebrovascular, cardiac and renal complications, and similar chronic illnesses that are common in the general population. Therefore, comprehensive phenotyping is crucial for grading the severity of pathogenic GLA variants.

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2018-08-01

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

ASMD

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic ASMD in adults: Oneyear results

POMPE

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

POMPE

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

MPS

Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study

ASMD

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

FABRY

Fabry disease: Genetics, pathology, and treatment

FABRY

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

POMPE

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

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