Ana Maria Fortuna
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Explore the profile of Ana Maria Fortuna including associated specialties, affiliations and a list of published articles.
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31
Citations
275
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Recent Articles
1.
Da Silva J, Soares A, Fortuna A, Tkachenko N
Genet Med Open
. 2024 Dec;
1(1):100781.
PMID: 39669252
Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, and...
2.
Capela A, Cunha A, Fortuna A, Falcao Reis C
Endocr Metab Immune Disord Drug Targets
. 2023 Dec;
PMID: 38111111
Introduction: Inborn errors of metabolism (IEM) are genetic diseases involving congenital disorders of enzyme activities. Most follow Mendelian autosomal recessive inheritance and few follow mitochondrial inheritance. In many cases, after...
3.
Da Silva J, Pereira A, Soares A, Guimas A, Rocha S, Cardoso M, et al.
Pediatr Res
. 2023 Dec;
96(2):365-371.
PMID: 38052860
Background: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in...
4.
Pereira A, Da Silva J, Soares A, Guimas A, Rocha S, Cardoso M, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Sep;
PMID: 37711120
Introduction - Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symptoms of exercise intolerance,...
5.
Pereira A, Tkachenko N, Fortuna A, Alonso I, Cardoso M, Da Silva J
Neurol Sci
. 2023 May;
44(9):3303-3305.
PMID: 37213040
Background: Progressive muscular atrophy (PMA) is a rare adult-onset neurological disease that is characterized by isolated lower motor neuron degeneration. While it is still disputable whether PMA is a subtype...
6.
Soares C, Almeida M, Soares G, Tkachenko N, Fortuna A, Carmona C
Am J Med Genet A
. 2023 Mar;
191(6):1525-1529.
PMID: 36872876
In phenylketonuria (PKU), high phenylalanine (Phe) levels hamper neurodevelopment impairing executive function later in life. While the second has been more studied, fewer data exist on predictors of PKU patients'...
7.
Da Silva J, Oliva-Teles N, Tkachenko N, Fino J, Marques M, Fortuna A, et al.
Biomedicines
. 2023 Jan;
11(1).
PMID: 36672520
The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the...
8.
Da Silva J, Gonzaga D, Barreta A, Correia H, Fortuna A, Soares A, et al.
Biomedicines
. 2022 Dec;
10(12).
PMID: 36551834
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific...
9.
Soares C, Tkachenko N, Vale-Fernandes E, Barreiro M, Abreu M, Falcao Reis C, et al.
JBRA Assist Reprod
. 2022 Aug;
27(2):180-184.
PMID: 35916466
Objective: Genetic counseling and carrier screening are part of the gamete donation process by healthy individuals. We aim to review the findings of genetic counseling and carrier screening of a...
10.
Maia N, Potelle S, Yildirim H, Duvet S, Akula S, Schulz C, et al.
Am J Hum Genet
. 2022 Jan;
109(2):345-360.
PMID: 35045343
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation...