Bruno Maranda
Overview
Explore the profile of Bruno Maranda including associated specialties, affiliations and a list of published articles.
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58
Citations
1371
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Recent Articles
11.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, et al.
Pediatrics
. 2021 Jul;
148(2).
PMID: 34266901
Background: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was...
12.
Auray-Blais C, Boutin M, Lavoie P, Maranda B
Int J Neonatal Screen
. 2021 Apr;
7(1).
PMID: 33804641
The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up...
13.
Moisan L, Iannuzzi D, Maranda B, Campeau P, Mitchell J
Orphanet J Rare Dis
. 2020 Sep;
15(1):270.
PMID: 32993725
Background: Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered...
14.
Boutin M, Lavoie P, Menkovic I, Toupin A, Abaoui M, Elidrissi-Elawad M, et al.
Int J Mol Sci
. 2020 Aug;
21(17).
PMID: 32854306
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding the α-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide...
15.
Tingley K, Lamoureux M, Pugliese M, Geraghty M, Kronick J, Potter B, et al.
Orphanet J Rare Dis
. 2020 Apr;
15(1):89.
PMID: 32276663
Background: The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop...
16.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, et al.
Orphanet J Rare Dis
. 2020 Jan;
15(1):12.
PMID: 31937333
Background: Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....
17.
Pennisi A, Maranda B, Benoist J, Baudouin V, Rigal O, Pichard S, et al.
J Inherit Metab Dis
. 2019 Dec;
43(3):540-548.
PMID: 31816104
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by impaired glucose liver homeostasis and proximal renal tubular dysfunction. It is caused by pathogenic variants in SLC2A2 coding for...
18.
Waters P, Lace B, Buhas D, Gravel S, Cyr D, Boucher R, et al.
Mol Genet Genomic Med
. 2019 Oct;
7(12):e1000.
PMID: 31654490
Background: HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is...
19.
Goudie C, Alayoubi A, Tibout P, Duval M, Maranda B, Mitchell D, et al.
JIMD Rep
. 2019 Jun;
46(1):46-51.
PMID: 31240154
Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement...
20.
Bosse Y, Lamontagne M, Gaudreault N, Racine C, Levesque M, Smith B, et al.
Lancet Respir Med
. 2019 Apr;
7(5):427-436.
PMID: 31000475
Background: Inherited mutations in SERPINA1 coding for the alpha-1 antitrypsin (A1AT) protein is the only well established cause of hereditary emphysema. We aimed to identify the genetic ecause of early-onset...