Results 31 to 40 of about 3,704 (134)

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

Molecular Genetics and Metabolism Reports
Background: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance.
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien   +6 more
doaj   +1 more source

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Orphanet Journal of Rare Diseases, 2019
Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism.
Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer, Matthias Gautschi   +5 more
doaj   +1 more source

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

Orphanet Journal of Rare Diseases, 2022
Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic ...
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +1 more source

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Orphanet Journal of Rare Diseases, 2020
Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment.
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch   +10 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Molecular Mobility of N‐Acetylgalactosamine‐Modified Cyclodextrins on a Polyrotaxane for Highly Efficient Liver Targeting of Antibody Chimeras and Genome‐Editing Ribonucleoproteins

Advanced Science, EarlyView.
Monovalent N‐acetylgalactosamine (GalNAc)‐modified polyrotaxane enables efficient liver targeting by utilizing ligand mobility. The sliding and rotating cyclic components i.e., cyclodextrin in the polyrotaxane dynamically cluster GalNAc moieties, thereby mimicking trivalent interactions with asialoglycoprotein receptors.
Toru Taharabaru, Keiichi Motoyama, Yuting Wen, Zhongxing Zhang, Xuehao Tian, Jun Li, Taishi Higashi   +6 more
wiley   +1 more source

Targeted β‐Glucan‐Veiled Oral Apremilast Nanotherapy Modulates Key Dysbiosis‐Associated Gut Microbiota and Alleviates Ulcerative Colitis‐Associated Anxiety, Depression, and Neuropsychiatric Behaviors

Advanced Science, EarlyView.
This study introduces β‐glucan‐shielded apremilast laden nanomicelles that withstand gastrointestinal degradation, selectively accumulate in inflamed colon tissue, and modulate the microbiota–gut–brain axis. The formulation restores barrier integrity, reduces systemic and neuroinflammation, and improves anxiety‐ and depression‐like behaviors in colitis
Chandrashekhar Jori, Ahmed Shaney Rehman, Taruna Lamba, Anas Ahmad, Jattin Kumar, Aneesh Ali, Ajesh Joshi, Ashraf Ali, Suhel Parvez, Javed N. Agrewala, Rehan Khan   +10 more
wiley   +1 more source

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

BMC Pediatrics
Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency,
Yong-cai Wang, Lian-cheng Lan, Xia Yang, Juan Xiao, Hai-xin Liu, Qing-wen Shan   +5 more
doaj   +1 more source

Cognitive functioning in patients with classical galactosemia: a systematic review

Orphanet Journal of Rare Diseases, 2019
Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level.
Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen   +4 more
doaj   +1 more source

Heat Stress and Gut Microbiome Dynamics in Poultry: Interplay, Consequences, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts gut microbial balance in poultry, impairing nutrient absorption and immunity. This review outlines the interplay between thermal stress and microbiome dynamics and discusses integrative mitigation strategies, probiotics, phytogenics, cooling systems, and genetic adaptation to enhance poultry resilience.
O. E. Oke, A. I. Oni, O. A. Akosile, K. M. Oliyide, C. A. Ishola, M. O. Logunleko, O. A. Jimoh, C. P. Njoku, L. O. Fasasi, V. A. Uyanga   +9 more
wiley   +1 more source