Results 81 to 90 of about 1,106 (149)

Treatment of Single Patient With PMM2‐Congenital Disorder of Glycosylation With Govorestat (AT‐007), an Aldose Reductase Inhibitor

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Elizabeth R. Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, Riccardo Perfetti, Joseph Muenzer   +4 more
wiley   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +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

Social cognition, psychosocial development and well-being in galactosemia

Orphanet Journal of Rare Diseases
Background Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry, Klervi Propice, Jessica Bourgin, Morgane Métral   +3 more
doaj   +1 more source

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

Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model

Disease Models & Mechanisms, 2014
Classic galactosemia (CG) is an autosomal recessive disorder resulting from loss of galactose-1-phosphate uridyltransferase (GALT), which catalyzes conversion of galactose-1-phosphate and uridine diphosphate (UDP)-glucose to glucose-1-phosphate and UDP ...
Patricia Jumbo-Lucioni, William Parkinson, Kendal Broadie   +2 more
doaj   +1 more source

From mind to mouth: event related potentials of sentence production in classic galactosemia.

PLoS ONE, 2012
Patients with classic galactosemia, an inborn error of metabolism, have speech and language production impairments. Past research primarily focused on speech (motor) problems, but these cannot solely explain the language impairments.
Inge Timmers, Bernadette M Jansma, M Estela Rubio-Gozalbo   +2 more
doaj   +1 more source

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis [PDF]

, 2016
Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤-2 standard deviations (SD).
van Erven, Britt, Welling, Lindsey, van Calcar, Sandra C., Doulgeraki, Artemis, Eyskens, François, Gribben, Joanna, Treacy, Eileen P., Vos, Rein, Waisbren, Susan E., Rubio-Gozalbo, M. Estela, Bosch, Annet M.   +10 more
openaire   +4 more sources

Screening for galactosemia: is there a place for it?

International Journal of General Medicine, 2019
Magd A Kotb, Lobna Mansour, Radwa A ShammaPediatrics Department, Faculty of Medicine, Kasr Al Ainy, Cairo University, Cairo, EgyptAbstract: Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for ...
Kotb MA, Mansour L, Shamma RA
doaj  

Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism [PDF]

Iranian Journal of Neonatology, 2015
Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection
Narges Pishva, Alie Mirzaee, Zohre Karamizade, Shahnaz Pourarian, Fariba Hemmati, Mostajab Razvi, Forough Saki   +6 more
doaj   +2 more sources