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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 4
2015 6
2016 1
2017 5
2018 2
2019 6
2020 7
2021 5
2022 1
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

39 results

Results by year

Filters applied: . Clear all
Page 1
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, Schwartz IVD. Hoss GRW, et al. Among authors: sperb ludwig f. Genet Mol Biol. 2024 Apr 5;46(3 Suppl 1):e20230103. doi: 10.1590/1678-4685-GMB-2023-0103. eCollection 2024. Genet Mol Biol. 2024. PMID: 38591937 Free PMC article.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: sperb ludwig f. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, Schwartz IVD. Monteiro VCL, et al. Among authors: sperb ludwig f. Orphanet J Rare Dis. 2021 Jun 3;16(1):254. doi: 10.1186/s13023-021-01877-3. Orphanet J Rare Dis. 2021. PMID: 34082801 Free PMC article. Clinical Trial.
The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.
Pinheiro FC, Ligabue-Braun R, Siqueira ACM, Matuella C, Souza CFM, Monteiro FP, Kok F, Schwartz IVD, Sperb-Ludwig F. Pinheiro FC, et al. Among authors: sperb ludwig f. Genet Mol Biol. 2021 May 14;44(2):e20200281. doi: 10.1590/1678-4685-GMB-2020-0281. eCollection 2021. Genet Mol Biol. 2021. PMID: 33999094 Free PMC article.
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR, Margutti AVB, Silva WA Jr, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS Jr. Campanholi DRR, et al. Among authors: sperb ludwig f. Mol Genet Genomic Med. 2021 May;9(5):e1616. doi: 10.1002/mgg3.1616. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955723 Free PMC article.
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Tonon T, de Oliveira Cardoso MT, Heredia RS, da Silva Rosa MTA, Martins BC, Poubel MO, da Silva LCS, Maillot F, Schwartz IVD. Tresbach RH, et al. Among authors: sperb ludwig f. Genes (Basel). 2020 Dec 25;12(1):20. doi: 10.3390/genes12010020. Genes (Basel). 2020. PMID: 33375644 Free PMC article.
39 results