Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

32 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
Whitehall KB, Rose S, Clague GE, Ahring KK, Bilder DA, Harding CO, Hermida Á, Inwood A, Longo N, Maillot F, Muntau AC, Pessoa ALS, Rocha JC, Rohr F, Sivri S, Said J, Oshinbolu S, Sibbring GC. Whitehall KB, et al. Among authors: pessoa als. Orphanet J Rare Dis. 2024 Aug 12;19(1):293. doi: 10.1186/s13023-024-03203-z. Orphanet J Rare Dis. 2024. PMID: 39135125 Free PMC article. Review.
Meta-analysis of bone mineral density in adults with phenylketonuria.
Rocha JC, Hermida Á, Jones CJ, Wu Y, Clague GE, Rose S, Whitehall KB, Ahring KK, Pessoa ALS, Harding CO, Rohr F, Inwood A, Longo N, Muntau AC, Sivri S, Maillot F. Rocha JC, et al. Among authors: pessoa als. Orphanet J Rare Dis. 2024 Sep 12;19(1):338. doi: 10.1186/s13023-024-03223-9. Orphanet J Rare Dis. 2024. PMID: 39267130 Free PMC article.
Sleep disorders in cerebrotendinous xanthomatosis: A case series.
Barbosa LRS, Camelo-Filho AE, Lima PLGSB, Moura AEF, Pessoa ALS, Braga-Neto P, Sobreira-Neto MA, Nóbrega PR. Barbosa LRS, et al. Among authors: pessoa als. Sleep Med. 2024 Dec;124:613-617. doi: 10.1016/j.sleep.2024.10.034. Epub 2024 Oct 29. Sleep Med. 2024. PMID: 39488927
Newborns with microcephaly in Brazil and potential vertical transmission of Oropouche virus: a case series.
das Neves Martins FE, Chiang JO, Nunes BTD, Ribeiro BFR, Martins LC, Casseb LMN, Henriques DF, de Oliveira CS, Maciel ELN, Azevedo RDS, Cravo LCC, Barreto ARF, Pessoa ALS, Filho AJM, de Sousa JR, Schuler-Faccini L, Quaresma JAS, da Costa Vasconcelos PF, da Silva Azevedo RDS. das Neves Martins FE, et al. Among authors: pessoa als. Lancet Infect Dis. 2024 Oct 15:S1473-3099(24)00617-0. doi: 10.1016/S1473-3099(24)00617-0. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39423837
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Nóbrega PR, et al. Among authors: pessoa als. Genet Med. 2025 Jan;27(1):101291. doi: 10.1016/j.gim.2024.101291. Epub 2024 Oct 9. Genet Med. 2025. PMID: 39394881 Free article.
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Among authors: pessoa als. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E, Araujo APQC, Becker MM, Fortes CPDD, França MC Jr, Machado-Costa MC, Marques W Jr, Matsui C Jr, Mendonça RH, Nardes F, Oliveira ASB, Pessoa ALS, Saute JAM, Sgobbi P, Van der Linden H Jr, Gurgel-Giannetti J. Zanoteli E, et al. Among authors: pessoa als. Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5. Arq Neuropsiquiatr. 2024. PMID: 38316428 Free PMC article.
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.
Braga VLL, Lima DP, Mariano TC, Lima PLGSB, Maia ABA, da Silva Meireles WW, de Oliveira Pessoa KT, de Oliveira CM, Ribeiro EM, Nóbrega PR, Pessoa ALS. Braga VLL, et al. Among authors: pessoa als. Brain Sci. 2023 Oct 28;13(11):1521. doi: 10.3390/brainsci13111521. Brain Sci. 2023. PMID: 38002481 Free PMC article.
32 results