Rare Diseases

Current bibliography for experts

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POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

2023-08-04

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

GAUCHER

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

2023-04-03

This is a comprehensive study regarding the two most disease-specific biomarkers, glucosylsphingosine (Lyso-Gb1) and α-synuclein for Gaucher disease (GD) and Parkinson's disease (PD), respectively.

ENZIM REPLASMAN TEDAVISI

Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

2022-10-03

High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients.

MPS

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

2022-08-16

This case report demonstrates that tuberculosis and mucopolysaccharidosis type I S can be treated simultaneously without serious adverse effects.

GAUCHER

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

2022-05-01

In this review, the challenges are investigated which physicians face in the diagnosis and management of Gaucher disease in pediatric patients.

XLH

Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient

2022-03-01

This study identifies a novel PHEX variant and shows that 3D printing tech is a very promising approach for corrective osteotomies.

GAUCHER

Newborn screening for Gaucher disease in Japan

2022-02-18

The prevalence of Gaucher disease (GD) using newborn screening (NBS) was 1 in 77,720 in Japan, which was higher than previously estimated frequency.

FABRY

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

2022-02-01

Start of treatment with enzyme replacement therapy (ERT) before age 16, in male classical Fabry disease (cFD) patients, is associated with reduced occurrence of renal and cardiac manifestations of Fabry disease (FD), as assessed by intermediate endpoints.

POMPE

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease

2022-01-06

Patients with classic infantile Pompe disease treated with the high enzyme replacement therapy (ERT) dosage of 40 mg/kg per week had significantly improved survival when compared with patients treated with the standard recommended ERT dosage of 20 mg/kg every other week.

FABRY

Growth Differentiation Factor-15 and Syndecan-1 Are Potential Biomarkers of Cardiac and Renal Involvement in Classical Fabry Disease under Enzyme Replacement Therapy

2022-01-01

Growth Differentiation Factor-15 (GDF-15) and Syndecan-1 were associated with parameters of cardiac and renal involvement in classic Fabry disease patients on enzyme replacement therapy (ERT). Their potential association with residual risk and disease outcomes should be investigated.

POMPE

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic

2021-12-20

This national study based on data from the French Pompe Registry shows that the interruption of ERT, even as short as a few months, worsens Pompe patients' motor and respiratory function.

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.

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