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This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

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.

MPS

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

2022-01-01

Adult patients with MPS may develop severe cardiovascular involvement, and clinicians should be aware of the need for careful monitoring and timely management of those potentially life-threatening complications.

MPS

Significant neuropsychiatric symptoms: Three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

2021-08-16

Diagnosis of MPS type IIIB should be remembered in cases presenting with neurodevelopmental and neuropsychiatric problems.

FABRY

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

2021-07-30

According to the findings of this study, Let-7a and Let-7d may be useful indicators for enzyme activity and inflammation in Fabry disease patients.

POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

2021-07-01

In Late-onset Pompe disease (LOPD), tongue weakness and imaging abnormalities are increasingly recognized. Quantitative tongue weakness and/or atrophy may help distinguish LOPD from other acquired/hereditary myopathies.

CLN2

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

2021-05-14

Cerliponase alfa is able to postpone the onset of symptoms when used in the presymptomatic stage of neuronal ceroid lipofuscinosis type 2 (CLN2 disease).

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

2019-11-01

Effective CLN2 disease management requires early diagnosis. This article updates on the spectrum of TPP1 variants associated with CLN2 disease.

CSID

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients

2018-10-01

This study aims to determine if (dys-)functional SI variants which causes CSID, are associated with IBS risk. The results provide further evidence about the association of rare functionally deleterious SI variations and IBS susceptibility. Further study is needed on the SI rare pathogenic variant (SI-RPV) prevalence in IBS patients.

CSID

Functional variants in the sucrase isomaltase gene associate with increased risk of irritable bowel syndrome

2018-02-01

In this study, sucrase–isomaltase (SI) gene variants were investigated for their potential role in IBS. It has been found that SI gene variants encoding disaccharidases with reduced enzymatic activity predispose to IBS.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

POMPE

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

MPS

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

MPS

Significant neuropsychiatric symptoms: Three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

FABRY

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease

POMPE

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy

CLN2

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

CSID

Increased Prevalence of Rare Sucrase-isomaltase (SI) Pathogenic Variants in Irritable Bowel Syndrome Patients

CSID

Functional variants in the sucrase isomaltase gene associate with increased risk of irritable bowel syndrome

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