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

Συγγραφείς: 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)

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

Θεματικοί όροι: *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.

Συγγραφείς: 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)

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

Θεματικοί όροι: *GALACTOSEMIA, *DYSTONIA, *TREMOR, *MOVEMENT disorders, *METABOLIC disorders, *DEEP brain stimulation, *ELECTRIC stimulation

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

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

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

Θεματικοί όροι: *MITOCHONDRIAL pathology, *GALACTOSEMIA, *NEWBORN screening, *METABOLIC disorders, *DELAYED diagnosis

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

Συγγραφείς: 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

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

Θεματικοί όροι: 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.

Συγγραφείς: Wong, Erica, Robertson, Louise

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

Θεματικοί όροι: 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

Συγγραφείς: 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}

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

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

Συγγραφείς: Leite, José Duarte Barros Santos

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

Πηγή: urn:tid:203994302

Θεματικοί όροι: Galactosemia, GALT, GALE, GALK 1, Metabolic

Περιγραφή αρχείου: application/pdf

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

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

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

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

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

Σύνδεσμος πρόσβασης: 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.

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

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

Θεματικοί όροι: 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

Γεωγραφικοί όροι: 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.

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

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

Θεματικοί όροι: Anxiety, Psychological stress, Family relations, Parents, Mental health, Family support, Time pressure, Galactosemia

Primary ovarian insufficiency in Classic Galactosemia: a systematic review

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

Πηγή: 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.

Συγγραφείς: 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

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

Θεματικοί όροι: *LACTOSE intolerance, *GALACTOSEMIA, *WHOLE genome sequencing, *SEPSIS, *NEONATAL sepsis, *CLAVICLE fractures

Γεωγραφικοί όροι: CHINA

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

Συγγραφείς: 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}

Πηγή: Journal of Pediatric Endocrinology and Metabolism.

Διαθεσιμότητα: 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.

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

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

Θεματικοί όροι: 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.

Συγγραφείς: 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)

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

Θεματικοί όροι: *BIOMARKERS, *GALACTOSEMIA, *HISTOLOGY

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

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

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

Θεματικοί όροι: 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

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

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

Θεματικοί όροι: 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

Σύνδεσμος πρόσβασης: 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

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

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

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

Σύνδεσμος πρόσβασης: https://doaj.org/article/689707264b284e1cae36e69e74950793

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

Συγγραφείς: 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

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

Θεματικοί όροι: 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

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

Πηγή: In Clinica Chimica Acta 1 January 2026 578