Rare Diseases

Current bibliography for experts

"Niemann-pick" search results...

ASMD

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

2023-06-06

This article reports the first description of all six diagnosed acid sphingomyelinase deficiency cases in Hungary.

ASMD

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency

2023-03-13

This study is the first to elucidate the effects of SMPD1 mutation on cell types and at the tissue level, which provides new insights into the genotype-phenotype association and can help in the precise diagnosis of Niemann-Pick disease (NPD).

GAUCHER

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: Our first 3720 patients

2022-09-30

The aim of this study is to present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs).

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.

ASMD

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic ASMD in adults: Oneyear results

2022-04-26

In individuals with acid sphingomyelinase deficiency (ASMD), olipudase alfa was well tolerated and associated with meaningful and wide-ranging improvements in disease pathology and clinically relevant endpoints compared to placebo.

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

NIEMANN-PICK

Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

2022-02-06

This article reports the case of a seven-month-old male infant who presented to the emergency department with continuous fever for one week, poor feeding, and failure to thrive

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.

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

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism

2021-08-20

In this article, the biochemical characteristics of acid sphingomyelinase (ASM), their potential effect on cellular lipid turnover, as well as a potential impact on physiological processes are discussed.

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