Rare Diseases

Current bibliography for experts

"Pediatric" search results...

SÜKRAZ-IZOMALTAZ EKSIKLIĞI

Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

2023-01-01

This clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey.

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.

FABRY

Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists

2022-09-28

It is aimed to review which biomarkers are useful for nephropathy follow-up among Fabry "amenable" patients receiving migalastat.

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.

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.

FABRY

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective

2022-03-01

This consensus statement aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD.

MPS

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: A mixed methods approach

2022-02-22

This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.

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.

MPS

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

2022-01-08

Following a consensus-based methodology, a multidisciplinary panel shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth

GAUCHER

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3

2021-11-01

This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of patients with Gaucher disease (GD) but also providing information on the outcomes of enzyme replacement therapy (ERT) in two different sub-types of GD.

MPS

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

2021-10-19

This case series shows the high disease burden of the mucopolysaccharidosis (MPS) VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of enzyme replacement therapy (ERT).

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...