Results 81 to 90 of about 3,547 (200)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Isolation of a Gamma‐Aminobutyric Acid (GABA)‐Producing Lactiplantibacillus plantarum XBMU‐SN‐23 and Optimization of Its Culture Medium Composition and Fermentation Conditions

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
In this study, a high GABA‐producing strain was isolated and screened from Jiangshui, through isolation and purification, Gram staining, and HPLC determination. The strain was identified as Lactiplantibacillus plantarum XBMU‐SN‐23 via 16S rDNA gene sequence analysis.
Dandan Gao, Chenchen Wang, Jiwen Wang, Junyao Mei, Yujie Cao, Xuankang Yang, Jinpu Ma, Shangyun Kang, Jinyong Ma, Ping Li   +9 more
wiley   +1 more source

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

JIMD Reports, 2020
Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy [PDF]

, 2017
How to Cite This Article: Pirzadeh Z, Ghofrani M, Mollamohammadi M. Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy. Iran J Child Neurol. Spring 2017; 11(2):31-36.
GHOFRANI, Mohammad, MOLLAMOHAMMADI, Mohsen, PIRZADEH, Zahra   +2 more
core   +2 more sources

Epilepsy: Molecular Pathogenesis and Emerging Therapies

MedComm, Volume 7, Issue 4, April 2026.
Progress has been made in the molecular pathogenesis of epilepsy, revealing multiple therapeutic targets. Recent advances in pharmacology, materials science, and surgical technique, coupled with progress in targeted therapy and disruptive epilepsy network technology, have led to the emergence of innovative strategies for epilepsy treatment.
Wanbin Huang, Jiabin Zong, Yu Zhang, Ming Li, Songqing Pan, Zheman Xiao   +5 more
wiley   +1 more source

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams, Alfadhel, Alfadhel, Alfadhel, Aljabri, Anwar, Aronson, Arts, Attwell, Baio, Banka, Barennes, Benton, Bettendorff, Bettendorff, Biesecker, Brown, Butterworth, Butterworth, Butterworth, Calhau, Carney, Chandrakumar, Chen, Cheung, Chornyy, Chugani, Colbert, Croft, Day, De Meirleir, Fattal-Valevski, Fattal-Valevski, Fleming, Forouhi, Foulon, Foulon, Fraccascia, Fraccascia, Fraser, Frustaci, Fujita, Galvin, Ganapathy, Gangolf, Ganie, Ghaleiha, Gibson, Giulivi, Gold, Greenwood, Gu, Harel, Hiffler, Hilker, Inaba, Ishaque, Israels, Jankowska-Kulawy, Junior, Kamasak, Karabatsiakis, Kelley, Kerns, Khaw, Kitamura, Kornreich, Kril, Laforenza, Leichter, Lindhurst, Liu, Lonsdale, Lonsdale, Lonsdale, Lorber, Lu, Lukienko, Luxemburger, Lương, Ma, Magos, Mahajan, Mahmood, Martel, Martin, Mayr, McLure, Mergenthaler, Mezzar, Mimouni-Bloch, Molina, Mulholland, Mulle, Muoio, Murata, Nabokina, Nabokina, Nardone, Navarro, Nikseresht, Obrenovich, Oishi, Opdenakker, Ortega Garcia, Ortigoza-Escobar, Pepersack, Perez-Duenas, Plaitakis, Prabakaran, Prohaska, Rabie, Randle, Renthal, Rindi, Rindi, Robinson, Roust, Rubio-Lopez, Said, Schaller, Scrimshaw, Sequeira Lopes da Silva, Shi, Singleton, Siu, Skjeldal, Smidt, Society, Song, Sperringer, Spiegel, Stargrove, Subramanian, Subramanian, Sweet, Tabarki, Talwar, Thomson, Thornalley, van den Brink, Vasconcelos, Vernau, Vernau, Vimokesant, Watkins, Wendel, Whitfield, Whitfield, Wierzbicki, Williams, Yang, Zhang, Zhao, Zuccoli   +154 more
core   +2 more sources

Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2014
ObjectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown.
Laura A, Jansen, Robert F, Hevner, William H, Roden, Si Houn, Hahn, Sunhee, Jung, Sidney M, Gospe   +5 more
openaire   +2 more sources

PDXK‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We report a patient carrying a novel missense variant c.826G>C, p.(Ala276Pro) found in compound heterozygous state with a previously reported variant in the PDXK gene. In silico analysis and our functional studies showed that the novel variant disrupts splicing, which leads to degradation of the aberrant transcript, thereby extending the known disease ...
Dmitrii Subbotin, Daria Akimova, Elena Dadali, Kristina Mikhalchuk, Artem Borovikov, Vitaly Kadyshev, Mikhail Skoblov, Aysylu Murtazina   +7 more
wiley   +1 more source

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy [PDF]

JIMD Rep
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
de Puyraimond C, Pichard S, Girard M, Delanne J, Faivre L, Imbard A, Baurand A, Benoist J, Mills P, Clayton P, Schiff M.   +10 more
europepmc   +2 more sources

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies. [PDF]

, 2018
Midline anomalies encompasses a heterogeneous group of conditions caused by an abnormal process of ventral induction after the end of primary neurulation.
D'Antonio, F, Khalil, A, Leombroni, M, Liberati, M   +3 more
core   +1 more source