Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial.

Authors: Randall, Jason A.¹ (AUTHOR) Jason.randall@clinoutsolutions.com, Sutter, Carolyn² (AUTHOR), Wang, Stella³ (AUTHOR), Bailey, Evan³ (AUTHOR), Raither, Lydia¹ (AUTHOR), Perfetti, Riccardo³ (AUTHOR), Shendelman, Shoshana³ (AUTHOR), Burbridge, Claire¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 9/30/2025, Vol. 20 Issue 1, p1-12. 12p.

Subject Terms: *GALACTOSEMIA, *BURDEN of care, *QUALITY of life, *CAREGIVER attitudes, *QUALITATIVE research, *CLINICAL trials, *THERAPEUTICS, *CHILD patients

Simultaneous, dual-target, bilateral deep brain stimulation for treatment of galactosemia-induced dystonia and tremor in a pediatric patient.

Authors: Bhargav, Adip G.^1,2 (AUTHOR) abhargav@kumc.edu, Lundy, Paige A.^1,2 (AUTHOR), Coffman, Keith A.^3,4 (AUTHOR), Kaufman, Christian B.^1,2 (AUTHOR)

Source: Child's Nervous System. 8/7/2025, Vol. 41 Issue 1, p1-5. 5p.

Subject Terms: *GALACTOSEMIA, *DYSTONIA, *TREMOR, *MOVEMENT disorders, *METABOLIC disorders, *DEEP brain stimulation, *ELECTRIC stimulation

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.

Authors: Alaee, Mohammadreza¹ (AUTHOR), Saneifard, Hedyeh¹ (AUTHOR), Shakiba, Marjan¹ (AUTHOR), Hanifeh, Marjan¹ (AUTHOR), Moarefian, Shirin^1,2 (AUTHOR) shirinmoarefian@yahoo.com

Source: Clinical Case Reports. Feb2025, Vol. 13 Issue 2, p1-8. 8p.

Subject Terms: *MITOCHONDRIAL pathology, *GALACTOSEMIA, *NEWBORN screening, *METABOLIC disorders, *DELAYED diagnosis

Translating the Power of Precision Medicine Into the World of Communication Disorders.

Authors: Peter, Beate, Davis, Jennifer, Bruce, Laurel, Finestack, Lizbeth, Kornelis, Miriam, Eng, Linda, Kim, Yookyung, Scherer, Nancy, Potter, Nancy, VanDam, Mark, Thompson, Lauren, Loveall, Susan, Stoel-Gammon, Carol, Raaz, Caitlin, Armstrong-Heimsoth, Amy, Buckley, Sue

Source: Journal of Speech, Language & Hearing Research; Nov2025, Vol. 68 Issue 11, p5174-5189, 16p

Subject Terms: TREATMENT of communicative disorders, PSYCHOLOGICAL resilience, THERAPEUTICS, DOWN syndrome, TRANSLATIONS, DYSLEXIA, SPEECH-language pathology, GALACTOSEMIA, COMMUNICATION, LANGUAGE disorders, COMMUNICATIVE disorders in children, EARLY diagnosis, GENETICS, PHENOTYPES, GENOTYPES

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

Authors: Wong, Erica, Robertson, Louise

Source: Journal of Human Nutrition & Dietetics; Oct2025, Vol. 38 Issue 5, p1-9, 9p

Subject Terms: MEDICAL protocols, CROSS-sectional method, PILOT projects, DESCRIPTIVE statistics, GALACTOSEMIA, SURVEYS, THEMATIC analysis, DIETITIANS, ATTITUDES of medical personnel, PHENOMENOLOGY, PSYCHOSOCIAL factors

Galactose Impairs Motor Performance and Cerebellar Signaling in Young Male Wistar Rats

Authors: Ferreira, Bruna Klippel, Paz-Simões, Thiago, Melo, Thairine Neves, Gonçalves, Patricia Felix Rolo, Kubrusly, Regina Celia Cussa, de Melo Reis, Ricardo Augusto, Neves, Gilda Angela, Ferreira, Gustavo Costa, Schuck, Patricia Fernanda^{Aff1, IDs12035024046846_cor1}

Source: Molecular Neurobiology. 62(6):7542-7556

Consequências a curto e a longo prazo de alterações no metabolismo da galactose

Authors: Leite, José Duarte Barros Santos

Contributors: Monteiro, Carlos, Rivera, Isabel, Repositório Comum

Source: urn:tid:203994302

Subject Terms: Galactosemia, GALT, GALE, GALK 1, Metabolic

File Description: application/pdf

Availability: http://hdl.handle.net/10400.26/58755

A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia

Authors: Shauna A. Rasmussen, Madelyn M. Seemiller, Ingrid Smith, Madeleine Wilson, Jennifer M. I. Daenzer, Keenan Wiggins, Judith L. Fridovich‐Keil

Source: JIMD Rep
JIMD Reports, Vol 66, Iss 4, Pp n/a-n/a (2025)

Subject Terms: Research Report, metabolic efficacy, bone marrow transplantation, rat model, Genetics, QH426-470, GALT‐null, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, galactosemia

Access URL: https://doaj.org/article/e3e2a7e15972418c9f3c1ff3c2e2ad47

Impact of Oral Nutritional Supplementation and Dietary Counseling on Outcomes of Linear Catch-Up Growth in Indian Children Aged 3–6.9 Years: Findings from a 6-Month Randomized Controlled Trial.

Authors: Khadilkar, Anuradha, Ranade, Arati, Bhosale, Neelambari, Motekar, Swapnil, Mehta, Nirali

Source: Children; Sep2025, Vol. 12 Issue 9, p1152, 21p

Subject Terms: DOCUMENTATION, FOOD consumption, RESEARCH funding, MENTAL health, T-test (Statistics), NUTRITION counseling, STATISTICAL sampling, LACTOSE intolerance, ORAL drug administration, EVALUATION of medical care, RANDOMIZED controlled trials, FOOD allergy, DESCRIPTIVE statistics, ANALYSIS of covariance, LONGITUDINAL method, GALACTOSEMIA, DEVELOPMENTAL disabilities, CHILD development, ANTHROPOMETRY, COMPARATIVE studies, CONFIDENCE intervals, DIETARY supplements, CHILDREN

Geographic Terms: INDIA

Lęk i stres rodziców oraz obciążenia wynikające z wychowywania dziecka z galaktozemią klasyczną.

Alternate Title: Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia.

Authors: Krzywdzińska-Rogowska, Amanda¹ amanda.krzywdzinska@imid.med.pl, Gozdanek, Aleksandra², Bauer, Anna¹, Radomyska, Barbara^3,4, Hozyasz, Kamil K.⁵

Source: Psychiatria Polska. 2025, Vol. 59 Issue 4, p659-677. 19p.

Subject Terms: Anxiety, Psychological stress, Family relations, Parents, Mental health, Family support, Time pressure, Galactosemia

Primary ovarian insufficiency in Classic Galactosemia: a systematic review

Authors: Candela, Egidio^{Aff1, Aff2}, Montanari, Giulia, Di Blasi, Elisabetta, Baronio, Federico^{Aff1, IDs40618024025278_cor1}, Cassio, Alessandra, Ortolano, Rita

Source: Journal of Endocrinological Investigation: Official Journal of Italian Society of Endocrinology (SIE). :1-13

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.

Authors: Lin, Jiansheng^1,2 (AUTHOR), Wu, Junfeng^2,3 (AUTHOR), Gong, Lan^4,5 (AUTHOR), Li, Xiaoqing^2,6 (AUTHOR) 476664661@qq.com, Wang, Gaoxiong^2,7 (AUTHOR) wanggaoxiong2013@163.com

Source: BMC Infectious Diseases. 6/19/2024, Vol. 24 Issue 1, p1-5. 5p.

Subject Terms: *LACTOSE intolerance, *GALACTOSEMIA, *WHOLE genome sequencing, *SEPSIS, *NEONATAL sepsis, *CLAVICLE fractures

Geographic Terms: CHINA

A 2-year-old girl with merged phenotypes: galactosemia and Coffin–Lowry syndrome

Authors: Sayar, Esra^{j_jpem-2025-0159_aff_001}, Gökçe Altaş, Gizem^{j_jpem-2025-0159_aff_001}, Sezer, Abdullah^{j_jpem-2025-0159_aff_002}, Kolkıran, Abdulkerim^{j_jpem-2025-0159_aff_003}, Ucan, Berna^{j_jpem-2025-0159_aff_004}, Olgac, Asburce^{j_jpem-2025-0159_aff_005}

Source: Journal of Pediatric Endocrinology and Metabolism.

Availability: https://www.degruyter.com/document/doi/10.1515/jpem-2025-0159/html

Chemical Structural Elucidation and Immunomodulatory Activity of a New Polysaccharide from Saposhnikoviae Radix.

Authors: Cui, Yifang, Fan, Haitao, Sun, Meng, He, Xinyang, Li, Jie, Tu, Guangzhong, Jiang, Yanyan, Liu, Bin

Source: Planta Medica; 2025, Vol. 91 Issue 9, p513-523, 11p

Subject Terms: METHYLATION, NUCLEAR magnetic resonance spectroscopy, MACROPHAGES, RESEARCH funding, MONOSACCHARIDES, CELL proliferation, DESCRIPTIVE statistics, PLANT extracts, POLYSACCHARIDES, GALACTOSEMIA, CELL culture, PHYSICAL & theoretical chemistry, MOLECULAR structure, ONE-way analysis of variance, BIOLOGICAL assay, DATA analysis software, IMMUNOMODULATORS, ANALYTICAL chemistry, CHROMATOGRAPHIC analysis, PHAGOCYTOSIS

Ovarian histology in children with classic galactosemia and correlation with endocrine and metabolic markers.

Authors: Badger, Taylor¹ (AUTHOR) taylor.badger@nih.gov, Kastury, Rama¹ (AUTHOR), Kavarthapu, Raghuveer¹ (AUTHOR), Balasubramanian, Ramya¹ (AUTHOR), De La Luz Sierra, Maria¹ (AUTHOR), Lou, Hong¹ (AUTHOR), Abbott, Craig¹ (AUTHOR), Yano, Jacqueline C.¹ (AUTHOR), Gomez-Lobo, Veronica¹ (AUTHOR)

Source: Fertility & Sterility. Oct2024, Vol. 122 Issue 4, p744-746. 3p.

Subject Terms: *BIOMARKERS, *GALACTOSEMIA, *HISTOLOGY

Unveiling an atypical presentation of galactosemia: A case report without hepatic involvement

Authors: Kamran Ahmad Khan, Shafeeq Khan, Riazullah, Kainat, Laiba Maryam, Tauseef Ahmad, Yassar Ul Mulk, Hamza Mukhtar

Source: World Journal of Advanced Research and Reviews. 23:2909-2912

Subject Terms: Galactosemia, Atypical presentation, Absence of hepatic involvement, Autosomal Recessive Disorder, Hypoglycemia, Galactose-1-phosphate uridyltransferase (GALT), 3. Good health

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null

Authors: Kara Simpson, Erin L. MacLeod, Julia Clayton, Nada A. Yazigi, M. Estela Rubio‐Gozalbo, Judith L. Fridovich‐Keil, Gerard T. Berry, Nicholas Ah Mew

Source: JIMD Rep
JIMD Reports, Vol 66, Iss 3, Pp n/a-n/a (2025)

Subject Terms: galactose-1-phosphate uridylyltransferase deficiency, liver transplant, galactose‐1‐phosphate uridylyltransferase deficiency, newborn screening, galactose-1-phosphate, Genetics, Case Report, QH426-470, RC648-665, Diseases of the endocrine glands. Clinical endocrinology, galactose‐1‐phosphate, galactosemia

Access URL: https://pubmed.ncbi.nlm.nih.gov/40352451
https://doaj.org/article/543367f5ce4b4833894e4073c0c4b45d

Galactosemia and timing of puberty: a case report of early diagnosed hypergonadotropic hypogonadism

Authors: Cecilia Lugarà, Roberto Coco, Alessandra Li Pomi, Letteria Anna Morabito, Malgorzata Wasniewska, Tommaso Aversa

Source: Atti della Accademia Peloritana dei Pericolanti-Classe di Scienze Medico-Biologiche, Vol 112, Iss 2, Pp 1-5 (2025)

Subject Terms: QH301-705.5, Medicine, galactosemia, puberty, hypergonadotropic hypogonadism, primary ovarian insufficiency, Biology (General), Galactosemia, puberty, hypergonadotropic hypogonadism, primary ovarian insufficiency

Access URL: https://doaj.org/article/689707264b284e1cae36e69e74950793

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

Authors: Bailey, Evan, Phan, Han, Ahmad, Ayesha, Thomas, Janet, Ames, Elizabeth G., Pritchard, Amanda B., Quinonez, Shane C., Wang, Stella, Dayley, Caleb, Salt, Andrew, Pick, Christina, Durrant, Abe, Johnson, Samuel, Nicodemus‐Johnson, Jessie, Dickson, Samuel P., Perfetti, Riccardo, Hendrix, Suzanne B., Shendelman, Shoshana

Source: Journal of Clinical Pharmacology; May2025, Vol. 65 Issue 5, p575-587, 13p

Subject Terms: RESEARCH funding, PATIENT safety, ENZYME inhibitors, STATISTICAL sampling, TREATMENT effectiveness, RANDOMIZED controlled trials, DESCRIPTIVE statistics, GALACTOSEMIA, PHARMACODYNAMICS

Evaluation of pre-analytical and analytical variables affecting galactose-1-phosphate uridyltransferase assay performance in the diagnosis of classical galactosemia

Authors: Forey, Rebecca ^{a, b}, Rodham, Annabel ^b, Moat, Stuart J ^{b, c, ⁎}

Source: In Clinica Chimica Acta 1 January 2026 578