Rare Diseases

Current bibliography for experts

"Nutrition" search results...

PHEX

Genetic and clinical profile of patients with hypophosphatemic rickets

2022-08-01

This study proposes a customized gene panel for targeted exome sequencing, which will be useful for confirming the diagnosis in most patients with hypophosphatemic rickets.

POMPE

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

2021-05-03

In LOPD, this condition can be treated by ERT, but also benefits from concomitant diet and aerobic exercise therapy.

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

2021-04-21

The guidelines in this study provide solid evidence-based and expert-agreed advice on the risks/benefits of disease-modifying treatments and medical procedures used for the management of patients with CLN2 disease and other neurodegenerative diseases.

LIPODISTROFI

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

2020-03-19

This study highlights the importance of early diagnosis in patients with lipodystrophy, although there is no definitive treatment for this disorder. It is emphasized that effective strategies should be developed to overcome the difficulties in the management of lipodystrophy in children and adolescents.

GAUCHER

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

CSID

Congenital Sucrase-Isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

2017-05-01

The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.

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

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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...

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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...