Bruno Maranda
Overview
Explore the profile of Bruno Maranda including associated specialties, affiliations and a list of published articles.
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Articles
58
Citations
1371
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0
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Recent Articles
1.
Farjallah A, Maranda B, Giugliani R, Auray-Blais C
Metabolomics
. 2025 Mar;
21(2):35.
PMID: 40024935
Introduction: Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked recessive disorder caused by iduronate-2-sulfatase deficiency, affecting mainly male patients. The lack of its enzyme activity causes the accumulation of the...
2.
Farjallah A, Maranda B, Giugliani R, Auray-Blais C
Mol Genet Metab
. 2025 Jan;
144(3):109022.
PMID: 39842066
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked lysosomal storage disorder. It results from a deficiency of the enzyme iduronate-2-sulfatase (I2S), leading to the accumulation...
3.
Martineau T, Maranda B, Auray-Blais C
Biomolecules
. 2025 Jan;
14(12.
PMID: 39766319
Background: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that...
4.
Cyr D, Boutin M, Maranda B, Waters P
JIMD Rep
. 2024 Nov;
65(6):433-441.
PMID: 39512438
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl-CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3-HG). Some low excretors...
5.
Boutin M, Maranda B, Waters P
Curr Protoc
. 2024 Jun;
4(6):e1087.
PMID: 38896100
Fabry disease (FD) is a lysosomal storage disorder caused by variants in the GLA gene encoding α-galactosidase A, an enzyme required for catabolism of globotriaosylceramide (Gb). Accumulation of Gb in...
6.
Iverson R, Taljaard M, Geraghty M, Pugliese M, Tingley K, Coyle D, et al.
BMC Pediatr
. 2024 Jan;
24(1):37.
PMID: 38216926
Background: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase...
7.
Yeganeh M, Auray-Blais C, Maranda B, Sabovic A, DeVita R, Lazarus M, et al.
JIMD Rep
. 2023 Nov;
64(6):440-445.
PMID: 37927488
Hyperlysinemia is a rare autosomal recessive deficiency of 2-aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports...
8.
Maranda B, Labbe S, Lurquin M, Brabant P, Fugere A, Larrivee J, et al.
Lancet Infect Dis
. 2023 Aug;
24(1):25-35.
PMID: 37619584
Background: COVID-19 severity is associated with its respiratory manifestations. Neutralising antibodies against SARS-CoV-2 administered systemically have shown clinical efficacy. However, immediate and direct delivery of neutralising antibodies via inhalation might...
9.
Boutin M, Lavoie P, Beaudon M, Ntumba G, Bichet D, Maranda B, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36834643
Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb) and related analogues. Lyso-Gb...
10.
Kelkel M, Boutin M, Curado F, Bauer P, Beauregard-Lacroix E, Mercier F, et al.
Bioanalysis
. 2022 Feb;
14(5):289-306.
PMID: 35118880
Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Urine samples from controls...