Rare Diseases

Current bibliography for experts

"Children" search results...

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.

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.

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

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).

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.

FABRY

Podocyturia in Fabry disease: A 10-year follow-up

2021-09-16

Podocyturia is considered as a non-invasive early marker of kidney injury in Fabry disease, but it should be kept in mind that podocyturia is a discontinuous event with wide variability.

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.

CSID

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

2021-08-01

This study sought to better understand the experience of patients with congenital sucraseisomaltase deficiency (CSID) prior to, during, and after their diagnosis and its subsequent treatment with sacrosidase.

ASM

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

2021-07-07

These data support investigation of lyso-sphingomyelin (LSM) as a biomarker for ASMD. Future studies are required to determine if LSM levels are predictive of phenotype in pre-symptomatic patients and how such levels correlate in response to treatment.

POMPE

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

2021-05-01

This study reports the effects of higher recombinant human acid-α glucosidase (rhGAA) dosing regimen on clinical outcomes, efficacy, and safety profile in patients with IPD and early-onset LOPD. It is shown that in early-onset Pompe disease, higher rhGAA doses are safe, and improve gross motor outcomes, lingual ability, pulmonary function tests, and biochemical markers.

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

2021-04-01

The data of this study support the inclusion of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in the differential diagnosis of children who have seizures, behavioural disorders, or language abnormalities. Early diagnosis will allow early initiation of specific treatments.

NCL

Neuronal Ceroid Lipofuscinoses in Children

2021-03-01

Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

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