Paulina Mabe
Overview
Explore the profile of Paulina Mabe including associated specialties, affiliations and a list of published articles.
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11
Citations
191
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0
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Recent Articles
1.
Wasserstein M, Lachmann R, Hollak C, Barbato A, Gallagher R, Giugliani R, et al.
Orphanet J Rare Dis
. 2023 Dec;
18(1):378.
PMID: 38042851
Background: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated...
2.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, et al.
Genet Med
. 2022 Dec;
25(4):100003.
PMID: 36549593
Purpose: Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work...
3.
Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher R, et al.
Genet Med
. 2022 Apr;
24(7):1425-1436.
PMID: 35471153
Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults. Methods: A...
4.
Cassiman D, Packman S, Bembi B, Ben Turkia H, Al-Sayed M, Schiff M, et al.
Mol Genet Metab
. 2017 Nov;
125(4):360.
PMID: 29129654
No abstract available.
5.
Cassiman D, Packman S, Bembi B, Ben Turkia H, Al-Sayed M, Schiff M, et al.
Mol Genet Metab
. 2016 May;
118(3):206-213.
PMID: 27198631
Background: Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase. Accumulation...
6.
Acuna M, Martinez P, Moraga C, He X, Moraga M, Hunter B, et al.
Eur J Hum Genet
. 2015 Apr;
24(2):208-13.
PMID: 25920558
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid...
7.
Schwartz I, Ribeiro M, Mota J, Toralles M, Correia P, Horovitz D, et al.
Acta Paediatr
. 2007 Mar;
96(455):63-70.
PMID: 17391446
Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details of the patients and their disease...
8.
Mabe P, Valiente A, Soto V, Cornejo V, Raimann E
Clin Chim Acta
. 2004 Jun;
345(1-2):135-40.
PMID: 15193988
Background: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively accumulated in...
9.
Cornejo V, Manriquez V, Colombo M, Mabe P, Jimenez M, de la Parra A, et al.
Rev Med Chil
. 2004 Jan;
131(11):1280-7.
PMID: 14743689
Background: Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet. Aim: To evaluate the...
10.
Aracena M, Mabe P, Mena M, Andreani S, Daza C
Rev Med Chil
. 2003 Jun;
131(3):314-9.
PMID: 12790082
We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of...