Carlos Eduardo Steiner
Overview
Explore the profile of Carlos Eduardo Steiner including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
43
Citations
156
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0
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Recent Articles
11.
Silveira H, Steiner C, Toccoli G, Angeloni L, Heleno J, Spineli-Silva S, et al.
Genes (Basel)
. 2024 Feb;
15(2).
PMID: 38397201
The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have...
12.
de Marchi R, Nalin T, Sperb-Ludwig F, Pinheiro F, Schwartz I, Steiner C
Genes (Basel)
. 2023 Dec;
14(12).
PMID: 38137041
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects...
13.
Castro J, Saab C, Souto M, Ortolam J, Steiner C, de Rezende T, et al.
Arq Neuropsiquiatr
. 2023 Oct;
81(9):809-815.
PMID: 37793403
Background: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (), clinically characterized by ichthyosis, spastic...
14.
Correia-Costa G, Dos Santos A, de Leeuw N, Rigatto S, Santoro Belangero V, Steiner C, et al.
Genes (Basel)
. 2022 Dec;
13(12).
PMID: 36553645
The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a...
15.
Montenegro Y, de Souza C, Kubaski F, Trapp F, Burin M, Michelin-Tirelli K, et al.
Am J Med Genet A
. 2021 Nov;
188(3):760-767.
PMID: 34806811
Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage...
16.
Montenegro Y, Baldo G, Giugliani R, de Oliveira Poswar F, Sobrinho R, Steiner C
Psychiatr Genet
. 2021 Aug;
31(5):199-204.
PMID: 34347683
Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here...
17.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos M, et al.
JIMD Rep
. 2021 Jul;
60(1):23-31.
PMID: 34258138
Background: Morquio B disease (MBD) is a distinct -related dysostosis multiplex presenting a mild phenocopy of -related Morquio A disease. Previously reported cases from European countries carry the W273L variant...
18.
Mejia Granados D, de Baptista M, Bonadia L, Bertuzzo C, Steiner C
Clin Cosmet Investig Dermatol
. 2020 Feb;
13:1-10.
PMID: 32021365
Background: Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology;...
19.
Visentainer L, Kazmarek L, Magalhaes R, Steiner C, Sotto M, Cintra M, et al.
Am J Dermatopathol
. 2019 Dec;
42(4):272-274.
PMID: 31809273
No abstract available.
20.
Sperb-Ludwig F, Pinheiro F, Bettio Soares M, Nalin T, Ribeiro E, Steiner C, et al.
Mol Genet Genomic Med
. 2019 Sep;
7(11):e877.
PMID: 31508908
Background: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the...