Results 11 to 20 of about 1,516 (160)

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes [PDF]

Orphanet Journal of Rare Diseases
Background Acid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 mutations. Due to its low prevalence and clinical heterogeneity, diagnosis is challenging, and detection is crucial for the initiation of enzyme ...
Thomas Villeneuve, Thibaut Jamme, Robin Schwob, Thierry Levade, Grégoire Prévot   +4 more
doaj   +2 more sources

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Acid sphingomyelinase deficiency is a lysosomal storage disease that is characterized by the systemic accumulation of sphingomyelin in cells. This condition is frequently associated with hepatomegaly and hepatic dysfunction, with 91.4% of patients showing clinically relevant signs of liver involvement. Both clinical observations and experimental models
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +2 more sources

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina. [PDF]

JIMD Rep
ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Robin MC, Durand C, Guelbert G, Guelbert N, Leguizamon M, Miñana MN, Cédola MA, de Lourdes Pacheco MG, Gonzalez E, Spallina M, Quijano S.   +10 more
europepmc   +2 more sources

Effect of Different Irrigation Levels and Methods of Humic Acid Addition on Growth, Yield and Storability of Garlic [PDF]

Journal of Plant Production, 2021
A field experiment was carried out to study the effect of different levels of irrigation at 40%, 60% and 80% of available soil moisture depletion (ASMD) and humic acid application methods (without, soil application, foliar application and soil ...
T. Deshesh, Sayed Rizk
doaj   +1 more source

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

Molecular Genetics and Metabolism Reports, 2021
Introduction: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B).
Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein   +3 more
doaj   +1 more source

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Background: Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are rare, chronic, function progressive, and debilitating disorders caused by the altered lysosomal enzymes glucocerebrosidase (GCase) in GD and sphingomyelinase (ASM) in ASMD respectively.
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +4 more sources

case report of ASMD Niemann pick disease

International journal of health sciences, 2022
Niemann Pick Disease  is a rare  disorder of lysosomal storage of the lipid sphingomyelin and foam cell infiltration of tissues presenting with varying degrees of severity.  metabolic abnormalities of two types responsible for causing  NPD.  acid sphingomyelinase deficiency is  the first metabolic abnormality  causing NPD type A and B and and second is
V S Hamsa, Arun Shriram, S Jagadeeswari, S Sundari   +3 more
openaire   +1 more source

YIELD AND WATER RELATIONS OF WHEAT UNDER TILLAGE SYSTEMS AND IRRIGATION REGIMES AT FAYOUM. [PDF]

Fayoum Journal of Agricultural Research and Development, 2006
Two field experiments were conducted at Fayoum Agric. Res.Station (Kom Osheem) during 2002/2003 and 2003/2004 seasons tostudy the effect of tillage operations (number of ploughing) andirrigation at different levels of available soil moisture (ASMD ...
Mohamed R.K Ashry, Kamal M.R Youssef
doaj   +1 more source

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Scientific Reports, 2021
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob   +7 more
doaj   +1 more source