Research & Literature

Differential Proteomics of Urinary Exovesicles from Classical Galactosemic Patients Reveals Subclinical Kidney Insufficiency.

Staubach S, Pekmez M, Hanisch FG

Journal of proteome research 2016; (15(6)):1754-61 doi:10.1021/acs.jproteome.5b00902.

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

Daenzer JM, Jumbo-Lucioni PP, Hopson ML, et al.

Disease models & mechanisms 2016; (9(11)):1375-1382 doi:10.1242/dmm.022988.

The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia.

Machado CM, De-Souza EA, De-Queiroz ALFV, et al.

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(6)):1403-1409 doi:10.1016/j.bbadis.2017.02.014.

Sweet and sour: an update on classic galactosemia.

Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I

Journal of inherited metabolic disease 2017; (40(3)):325-342 doi:10.1007/s10545-017-0029-3.

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.

Viggiano E, Marabotti A, Politano L, Burlina A

Clinical genetics 2018; (93(2)):206-215 doi:10.1111/cge.13030.

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.

Coelho AI, Bierau J, Lindhout M, et al.

Anatomical record (Hoboken, N.J. : 2007) 2017; (300(9)):1570-1575 doi:10.1002/ar.23616.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven B, Berry GT, Cassiman D, et al.

Fertility and sterility 2017; (108(1)):168-174 doi:10.1016/j.fertnstert.2017.05.013.

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.

Frederick AB, Cutler DJ, Fridovich-Keil JL

Journal of inherited metabolic disease 2017; (40(6)):813-821 doi:10.1007/s10545-017-0067-x.

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

Thakur M, Feldman G, Puscheck EE

Journal of assisted reproduction and genetics 2018; (35(1)):3-16 doi:10.1007/s10815-017-1039-7.

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Demirbas D, Brucker WJ, Berry GT

Pediatric clinics of North America 2018; (65(2)):337-352 doi:10.1016/j.pcl.2017.11.008.

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Yuzyuk T, Balakrishnan B, Schwarz EL, et al.

Molecular genetics and metabolism 2018; (125(3)):258-265 doi:10.1016/j.ymgme.2018.08.012.

Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia.

McCandless SE

Pediatrics 2019; (143(1)) doi:10.1542/peds.2018-3292.

Developmental Outcomes in Duarte Galactosemia.

Carlock G, Fischer ST, Lynch ME, et al.

Pediatrics 2019; (143(1)) doi:10.1542/peds.2018-2516.

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.

Grama A, Blaga L, Nicolescu A, et al.

Medicina (Kaunas, Lithuania) 2019; (55(4)) doi:10.3390/medicina55040091.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al.

Orphanet journal of rare diseases 2019; (14(1)):86 doi:10.1186/s13023-019-1047-z.

RE: Commentary on Developmental Outcomes in Duarte Galactosemia.

Feder SL

Pediatrics 2019; (143(5)) doi:10.1542/peds.2019-0477.

Screening for galactosemia: is there a place for it?

Kotb MA, Mansour L, Shamma RA

International journal of general medicine 2019; (12()):193-205 doi:10.2147/IJGM.S180706.

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.

Sabatino JA, Starin D, Tuchman S, et al.

JIMD reports 2019; (49(1)):7-10 doi:10.1002/jmd2.12056.

Galactosemia.

Cerone J, Rios A

Pediatrics in review 2019; (40(Suppl 1)):24-27 doi:10.1542/pir.2018-0150.

Therapies for galactosemia: a patent landscape.

Timson DJ

Pharmaceutical patent analyst 2020; (9(2)):45-51 doi:10.4155/ppa-2020-0004.

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.

Ahtam B, Waisbren SE, Anastasoaie V, et al.

Journal of inherited metabolic disease 2020; (43(6)):1205-1218 doi:10.1002/jimd.12279.

Hypothalamic-Pituitary Axis Dysfunction after Whole Brain Radiotherapy - A Cohort Study.

Gebauer J, Mehta P, Fahlbusch FB, et al.

Anticancer research 2020; (40(10)):5787-5792 doi:10.21873/anticanres.14595.

A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia.

Kavehmanesh Z, Torkaman M, Beiraghdar F

Turk pediatri arsivi 2020; (55(3)):316-319 doi:10.14744/TurkPediatriArs.2019.21298.

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate.

Cohen AS, Baurek M, Lund AM, et al.

International journal of neonatal screening 2019; (5(2)):19 doi:10.3390/ijns5020019.

Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.

Yuzyuk T, Wilson AR, Mao R, Pasquali M

The journal of applied laboratory medicine 2018; (3(2)):222-230 doi:10.1373/jalm.2017.025536.

Hand fine motor control in classic galactosemia.

MacWilliams J, Patel S, Carlock G, et al.

Journal of inherited metabolic disease 2021; (44(4)):871-878 doi:10.1002/jimd.12376.

Transient developmental delays in infants with Duarte-2 variant galactosemia.

Waisbren SE, Tran C, Demirbas D, et al.

Molecular genetics and metabolism 2021; (134(1-2)):132-138 doi:10.1016/j.ymgme.2021.07.009.

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia.

Khoury B, Shakir MK, Hoang TD

BMJ case reports 2021; (14(8)) doi:10.1136/bcr-2021-244788.

Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

Treacy EP, Vencken S, Bosch AM, et al.

JIMD reports 2021; (61(1)):76-88 doi:10.1002/jmd2.12237.

Acute and early developmental outcomes of children with Duarte galactosemia.

Fridovich-Keil JL, Carlock G, Patel S, et al.

JIMD reports 2022; (63(1)):101-106 doi:10.1002/jmd2.12267.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

Randall JA, Sutter C, Wang S, et al.

Orphanet journal of rare diseases 2022; (17(1)):138 doi:10.1186/s13023-022-02287-9.

Transient Cytopenias as a Rare Presentation of Classic Galactosemia.

Gianniki M, Nikaina I, Avgerinou G, et al.

Cureus 2022; (14(3)):e23101 doi:10.7759/cureus.23101.

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.

Peter B, Davis J, Finestack L, et al.

HGG advances 2022; (3(3)):100119 doi:10.1016/j.xhgg.2022.100119.

Determination of the lactose and galactose content of common foods: Relevance to galactosemia.

Shakerdi LA, Wallace L, Smyth G, et al.

Food science & nutrition 2022; (10(11)):3789-3800 doi:10.1002/fsn3.2976.

All aspects of galactosemia: a single center experience.

Akgun A, Dogan Y

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(1)):29-35 doi:10.1515/jpem-2022-0308.

Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.

Hagen-Lillevik S, Johnson J, Lai K

Journal of ovarian research 2022; (15(1)):122 doi:10.1186/s13048-022-01049-2.

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

Daas S, Abu Salah N, Anikster Y, et al.

Journal of inherited metabolic disease 2023; (46(2)):232-242 doi:10.1002/jimd.12580.

Virtual Post-Intervention Speech and Language Assessment of Toddler and Preschool Participants in Babble Boot Camp.

Potter NL, VanDam M, Bruce L, et al.

Journal of speech, language, and hearing research : JSLHR 2024; (67(9S)):3327-3339 doi:10.1044/2023_JSLHR-22-00687.

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

Chen HA, Hsu RH, Chen LC, et al.

Molecular genetics and metabolism reports 2024; (38()):101048 doi:10.1016/j.ymgmr.2024.101048.

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

Almenabawy N, Bahl S, Ostlund AL, et al.

Molecular genetics and metabolism reports 2024; (38()):101055 doi:10.1016/j.ymgmr.2024.101055.

Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia.

Machado CM, de-Souza-Ferreira E, Silva GFS, et al.

Biochimica et biophysica acta. Molecular basis of disease 2024; (1870(7)):167340 doi:10.1016/j.bbadis.2024.167340.

Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.

Armstrong-Heimsoth A, Monroe A, Cupp C, et al.

Journal of occupational therapy, schools & early intervention 2024; (17(2)):216-227 doi:10.1080/19411243.2023.2192206.

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Bailey E, Phan H, Ahmad A, et al.

Journal of clinical pharmacology 2025; (65(5)):575-587 doi:10.1002/jcph.6170.

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.

Niess E, Niess F, Bogner W, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70097 doi:10.1002/jimd.70097.

Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication.

Gagen JK, Tinker RJ, Phillips JA, Furuta Y

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; doi:10.1016/j.pedhc.2026.02.001.

Galactose tolerance in adults with classical galactosaemia. Considering the gaps.

Shakerdi LA, Thacker CN, Moore K, et al.

Molecular genetics and metabolism reports 2026; (46()):101298 doi:10.1016/j.ymgmr.2026.101298.