"Hepatosplenomegaly" search results...

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.

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

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.

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

2022-09-16

This article reports a case of Niemann Pick disease type B with sea-blue histiocytes that was misdiagnosed as Budd-Chiari syndrome for three years.

NIEMANN-PICK HASTALIĞI

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree

2022-08-26

This study reports a c.1420_1421del mutation in SMPD1 gene which caused ASM activity decrease.

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

2022-07-27

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

GAUCHER

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

2022-04-01

Early diagnosis is essential for Gaucher disease and prenatal diagnosis makes genetic counselling possible for future pregnancies.

GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

2022-01-06

Development of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.

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.

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.

MPS

Differences in MPS I and MPS II Disease Manifestations

2021-07-23

While enzyme replacement therapy (ERT) has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of MPS II patients, it does not significantly affect CNS manifestations. Therefore, many experimental therapies aim to prevent neurocognitive decline in these patients.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

GAUCHER

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

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

ENZIM REPLASMAN TEDAVISI

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

NIEMANN-PICK

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

NIEMANN-PICK HASTALIĞI

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

GAUCHER

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

GAUCHER

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

ALFA-MANNOSIDOZ

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

MPS

Differences in MPS I and MPS II Disease Manifestations

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