U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 236

1.
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta
Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
Mol Genet Metab Rep. 2024 Mar; 38: 101055. Published online 2024 Jan 25. doi: 10.1016/j.ymgmr.2024.101055
PMCID:
PMC10926219
ArticlePDF–467K
2.
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien
Mol Genet Metab Rep. 2024 Mar; 38: 101048. Published online 2024 Jan 10. doi: 10.1016/j.ymgmr.2024.101048
PMCID:
PMC10926206
ArticlePDF–955K
3.
Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report
Ioannis Karafyllis, Jean-Marc Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer
Case Rep Neurol. 2024 Jan-Dec; 16(1): 55–62. Published online 2024 Feb 7. doi: 10.1159/000536679
PMCID:
PMC10914380
ArticlePDF–385K
4.
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Merel E. Hermans, Gert J. Geurtsen, Carla E. M. Hollak, Annet M. Bosch
JIMD Rep. 2024 Mar; 65(2): 110–115. Published online 2024 Jan 9. doi: 10.1002/jmd2.12410
PMCID:
PMC10910214
ArticlePDF–763K
5.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Front Genet. 2024; 15: 1355962. Published online 2024 Feb 15. doi: 10.3389/fgene.2024.1355962
PMCID:
PMC10902464
ArticlePDF–1.1M
6.
Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia
Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai
Mol Ther Methods Clin Dev. 2024 Mar 14; 32(1): 101191. Published online 2024 Jan 17. doi: 10.1016/j.omtm.2024.101191
PMCID:
PMC10863324
ArticlePDF–2.8M
7.
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Nathan W. P. Cantley, Robert Barski, Helena Kemp, Sarah L. Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, Lynette Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, Rachel S. Carling, Stuart J. Moat
Int J Neonatal Screen. 2024 Mar; 10(1): 2. Published online 2023 Dec 22. doi: 10.3390/ijns10010002
PMCID:
PMC10801530
ArticlePDF–485K
8.
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio, Cristiano Simone
Int J Mol Sci. 2023 Dec; 24(24): 17388. Published online 2023 Dec 12. doi: 10.3390/ijms242417388
PMCID:
PMC10744227
ArticlePDF–10M
9.
Molecular characterization of novel and rare DNA variants in patients with galactosemia
Vasileios Maroulis, Andreas Agathangelidis, Anastasia Skouma, Triantafyllia Sdogou, Manoussos N. Papadakis, Evangelos Papakonstantinou, Panagiotis Girginoudis, Constantinos E. Vorgias, Vassiliki Aleporou, Panagoula Kollia
Front Genet. 2023; 14: 1266353. Published online 2023 Nov 27. doi: 10.3389/fgene.2023.1266353
PMCID:
PMC10711677
ArticlePDF–1.9M
10.
Deficiencia de succinil-CoA acetoacetato transferasa: reporte de un caso
Miguel Angel Jurado-Aguirre, Ana Elena Pérez-Verdín
Rev Med Inst Mex Seguro Soc. 2023 Sep-Oct; 61(5): 691–694. Spanish. doi: 10.5281/zenodo.8316483
PMCID:
PMC10599782
ArticlePDF–656K
11.
Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time
Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
J Patient Rep Outcomes. 2023 Dec; 7: 95. Published online 2023 Sep 26. doi: 10.1186/s41687-023-00635-2
PMCID:
PMC10522554
ArticlePDF–1.7M
12.
The challenges of classical galactosemia: HRQoL in pediatric and adult patients
Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch
Orphanet J Rare Dis. 2023; 18: 135. Published online 2023 Jun 2. doi: 10.1186/s13023-023-02749-8
PMCID:
PMC10236383
ArticlePDF–1.1M
13.
Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
Ioana Rosca, Alina Turenschi, Alin Nicolescu, Andreea Teodora Constantin, Adina Maria Canciu, Alice Denisa Dica, Elvira Bratila, Ciprian Andrei Coroleuca, Leonard Nastase
Medicina (Kaunas) 2023 May; 59(5): 856. Published online 2023 Apr 28. doi: 10.3390/medicina59050856
PMCID:
PMC10220887
ArticlePDF–2.0M
14.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
Nichole M. Stettner, David J. Cutler, Judith L. Fridovich-Keil
Mol Genet Metab. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107542. Published online 2023 Feb 21. doi: 10.1016/j.ymgme.2023.107542
PMCID:
PMC10133179
ArticlePDF–94K
15.
Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots
Ahmad N. Alodaib, Refat M. Nimer, Rowan Alhumaidy, Alaa Alhenaky, Mai Abdel Jabar, Reem H. AlMalki, Anas M. Abdel Rahman
Front Mol Biosci. 2023; 10: 1154149. Published online 2023 Apr 4. doi: 10.3389/fmolb.2023.1154149
PMCID:
PMC10110906
ArticlePDF–1.7M
16.
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia
Amelie S. Lotz-Havla, Tara Christmann, Klaus G. Parhofer, Esther M. Maier, Joachim Havla
J Clin Med. 2023 Mar; 12(5): 2030. Published online 2023 Mar 3. doi: 10.3390/jcm12052030
PMCID:
PMC10004555
ArticlePDF–609K
17.
Gas Chromatography with Flame-Ionization Detection-Based Analysis of Sugar Contents in Korean Agricultural Products for Patients with Galactosemia
Ha-Neul Jeong, Ryeong Ha Kwon, Yuri Kim, Sang-Ho Yoo, Seon Mi Yoo, Chi-Do Wee
Foods. 2023 Mar; 12(5): 1104. Published online 2023 Mar 5. doi: 10.3390/foods12051104
PMCID:
PMC10000368
ArticlePDF–796K
18.
The hypergonadotropic hypogonadism conundrum of classic galactosemia
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Hum Reprod Update. 2023 Mar-Apr; 29(2): 246–258. Published online 2022 Dec 13. doi: 10.1093/humupd/dmac041
PMCID:
PMC9976963
ArticlePDF–1.3M
19.
Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia
Lizbeth H. Finestack, Nancy Potter, Mark VanDam, Jennifer Davis, Laurel Bruce, Nancy Scherer, Linda Eng, Beate Peter
Am J Speech Lang Pathol. 2022 Nov; 31(6): 2527–2538. Published online 2022 Oct 14. doi: 10.1044/2022_AJSLP-22-00107
PMCID:
PMC9911118
ArticlePDF–209K
20.
The Importance of Neonatal Screening for Galactosemia
Ioana Badiu Tișa, Anca Cristina Achim, Anamaria Cozma-Petruț
Nutrients. 2023 Jan; 15(1): 10. Published online 2022 Dec 20. doi: 10.3390/nu15010010
PMCID:
PMC9823668
ArticlePDF–299K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center