Rare Diseases

Current bibliography for experts

ALPHA-MANNOSIDOSIS

Long-term outcome of patients with alpha-mannosidosis - A single center study

2021-12-09

The aim of this study was to present the long-term follow-up of 12 Polish patients with alpha-mannosidosis (AM), evaluate the clinical, biochemical, and molecular findings and progression of the disease.

LIPODISTROFI

Complications of lipodystrophy syndromes

2021-11-10

Lipodystrophy leads to severe metabolic problems. Metabolic abnormalities can be present at the time of diagnosis or may develop over time as the disease progresses

MPS

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy

2021-11-01

The findings of this study indicate the need for novel treatment methods that target the skeletal system in affected patients.

ASMD

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation

2021-10-27

This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults.

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

2021-10-22

The aim of this study was to investigate the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigate the associated factors.

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).

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

2021-10-06

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

XLH

Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

2021-10-01

Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

2021-09-16

This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

NIEMANN-PICK

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C

2021-09-01

In this study, ocular motor function is investigated in patients with Niemann-Pick disease type C (NPC)

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.

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.

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...

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress will be organized by the Neuromuscular Diseases Research Association between Sep...

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...

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...