Research & Literature

The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis.

Portnoi PA, MacDonald A

JIMD reports 2016; (29()):85-87 doi:10.1007/8904_2015_520.

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.

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

Schulpis KH, Thodi G, Iakovou K, et al.

Scandinavian journal of clinical and laboratory investigation 2017; (77(6)):423-427 doi:10.1080/00365513.2017.1334262.

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek K, Bouva MJ, Schielen PCJI, et al.

Molecular genetics and metabolism 2018; (124(1)):50-56 doi:10.1016/j.ymgme.2018.03.008.

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.

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(6)):1286-1294 doi:10.1038/s41436-018-0340-x.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Haskovic M, Derks B, van der Ploeg L, et al.

Orphanet journal of rare diseases 2018; (13(1)):212 doi:10.1186/s13023-018-0954-8.

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

van Karnebeek CDM, Sayson B, Lee JJY, et al.

Frontiers in neurology 2018; (9()):1016 doi:10.3389/fneur.2018.01016.

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.

The role of integrated behavioral health in caring for patients with metabolic disorders.

Soares N, Apple RW, Kanungo S

Annals of translational medicine 2018; (6(24)):478 doi:10.21037/atm.2018.10.62.

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Çelik M, Özgün N, Akdeniz O, et al.

The Turkish journal of pediatrics 2018; (60(5)):540-546.

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.

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.

Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.

Peter B, Potter N, Davis J, et al.

F1000Research 2019; (8()):271 doi:10.12688/f1000research.18062.5.

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.

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.

The structural and molecular biology of type IV galactosemia.

Banford S, Timson DJ

Biochimie 2021; (183()):13-17 doi:10.1016/j.biochi.2020.11.001.

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Febres-Aldana CA, Pelaez L, Wright MS, et al.

Molecular syndromology 2020; (11(5-6)):320-329 doi:10.1159/000511343.

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.

Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.

Peter B, Davis J, Cotter S, et al.

American journal of speech-language pathology 2021; (30(6)):2616-2634 doi:10.1044/2021_AJSLP-21-00098.

Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature.

Kruszewska J, Laudy-Wiaderny H, Krzywdzinska S, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2022; (38(2)):186-189 doi:10.1080/09513590.2021.1998437.

Pathophysiology and management of classic galactosemic primary ovarian insufficiency.

Hagen-Lillevik S, Rushing JS, Appiah L, et al.

Reproduction & fertility 2021; (2(3)):R67-R84 doi:10.1530/RAF-21-0014.

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.

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.

Clinical Utilities of Anti-Müllerian Hormone.

Russell N, Gilmore A, Roudebush WE

Journal of clinical medicine 2022; (11(23)) doi:10.3390/jcm11237209.

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.

The Importance of Neonatal Screening for Galactosemia.

Badiu Tișa I, Achim AC, Cozma-Petruț A

Nutrients 2022; (15(1)) doi:10.3390/nu15010010.

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.

Vitoria I, Melendreras F, Vázquez-Palazón A, et al.

Nutrients 2023; (15(3)) doi:10.3390/nu15030594.

Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency.

Zhu Y, Lobato AG, Rebelo AP, et al.

JCI insight 2023; (8(10)).

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Kalay I, Gulec C, Balcı MC, et al.

Annals of human genetics 2023; (87(6)):285-294 doi:10.1111/ahg.12523.

Molecular characterization of novel and rare DNA variants in patients with galactosemia.

Maroulis V, Agathangelidis A, Skouma A, et al.

Frontiers in genetics 2023; (14()):1266353 doi:10.3389/fgene.2023.1266353.

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

Forte G, Buonadonna AL, Pantaleo A, et al.

International journal of molecular sciences 2023; (24(24)) doi:10.3390/ijms242417388.

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.

A case report of classic galactosemia with a GALT gene variant and a literature review.

Wang YC, Lan LC, Yang X, et al.

BMC pediatrics 2024; (24(1)):352 doi:10.1186/s12887-024-04769-0.

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.

Safety, Pharmacokinetics, and Pharmacodynamics of the New Aldose Reductase Inhibitor Govorestat (AT-007) After a Single and Multiple Doses in Participants in a Phase 1/2 Study.

Perfetti R, Bailey E, Wang S, et al.

Journal of clinical pharmacology 2024; (64(11)):1397-1406 doi:10.1002/jcph.2495.

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.

Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.

Orteza MEV, Abacan MAR

Acta medica Philippina 2024; (58(18)):56-63 doi:10.47895/amp.vi0.8179.

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.

Primary ovarian insufficiency in Classic Galactosemia: a systematic review.

Candela E, Montanari G, Di Blasi E, et al.

Journal of endocrinological investigation 2025; (48(6)):1303-1315 doi:10.1007/s40618-024-02527-8.

A Global Survey of Dietitians' Perspectives and Implementation of the International Clinical Guidelines for Classical Galactosaemia.

Wong E, Robertson L

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2025; (38(5)):e70141 doi:10.1111/jhn.70141.

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.

Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document.

Robertson L, Tapley S, Sparks A, et al.

Molecular genetics and metabolism reports 2025; (45()):101277 doi:10.1016/j.ymgmr.2025.101277.