Results 11 to 20 of about 908,246 (301)

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons [PDF]

JIMD Reports
Pyridox(am)ine 5′ Phosphate Oxidase deficiency (PNPO) presents with refractory epilepsy responsive to treatment with pyridoxal 5′ phosphate (PLP) or pyridoxine.
Richard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, Michael Stormon, Gordon Thomas, Albert Shun, David Geoffrey Bowen, Timothy Fielder, Peter Barclay, Youssef Khalil, Philippa Mills, Peter Clayton, Kaustuv Bhattacharya   +12 more
doaj   +3 more sources

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency [PDF]

Human Molecular Genetics, 2020
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway.
Hilal H. Al-Shekaili, Terri L. Petkau, Izabella A. Pena, Tess C. Lengyell, Nanda M. Verhoeven‐Duif, Jolita Čiapaitė, Marjolein Bosma, Martijn van Faassen, Ido P. Kema, Gabriella Horváth, Colin J.D. Ross, Elizabeth M. Simpson, Jan M. Friedman, Clara van Karnebeek, Blair R. Leavitt   +14 more
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Moderate pyridoxal phosphate deficiency enhances neuronal excitability and promotes calcium dysregulation [PDF]

Frontiers in Neuroscience
ObjectivePyridoxal 5′-phosphate (PLP), the active form of pyridoxine (vitamin B6), is essential for converting glutamate into the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Severe consequences of PLP deficiency due to genetic defects are
Valerie Girgis, Ashlyn Tharington, Jadyn Trivett, Sylvia Fitting, Rick B. Meeker, Clio Rubinos   +5 more
doaj   +2 more sources

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]

Genetics, 2017
Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..
Izabella A. Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon L. Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A. Dyment, Clara van Karnebeek, Nanda M. Verhoeven‐Duif, Tuan V. Bui, Kym M. Boycott, Marc Ekker, Alex MacKenzie   +16 more
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Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment [PDF]

Journal of Central Nervous System Disease, 2014
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme.
Majid Alfadhel, Rana Kattan
doaj   +2 more sources

Pyridoxine Deficiency in Hyperthyroidism.

Experimental Biology and Medicine, 1960
SummaryThe occurrence of pyridoxine deficiency was determined in 14 patients with hyperthyroidism and 14 control euthyroid patients by the tryptophan load test. Urinary xanthurenic acid excretion following the tryptophan load test was significantly greater in hyperthyroid patients than in controls.
M G, WOHL, H A, LEVY, A, SZUTKA, G, MALDIA   +3 more
openaire   +3 more sources

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation

Journal of Child Neurology, 2019
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to ...
Licia Lugli, Maria Carolina Bariola, Luca Ori, Laura Lucaccioni, Alberto Berardi, Fabrizio Ferrari   +5 more
openalex   +3 more sources

Comparison of the effectiveness of an oral combination of thiamine, pyridoxine, and cyanocobalamin with parenteral cyanocobalamin in adolescents with nutritional vitamin B12 deficiency [PDF]

Gülhane Tıp Dergisi
Aims: Nutritional vitamin B12 deficiency remains a significant public health issue. This study aimed to compare the efficacy of an oral combination of thiamine, pyridoxine, cyanocobalamin, and parenteral cyanocobalamin treatment among adolescents with ...
Ömer Güneş, Mehmet Ağıllı, Fatih Üçkardeş, Yüksel Hakan Aydoğmuş, Bahar Öztelcan Gündüz, Erman Ataş   +5 more
doaj   +2 more sources

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency

Brain & development (Tokyo. 1979), 2021
Junpei Tanigawa, Shin Nabatame, Koji Tominaga, Yoko Nishimura, Yoshihiro Maegaki, Taroh Kinosita, Yoshiko Murakami, Keiichi Ozono   +7 more
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Effect of vitamin B-6 (pyridoxine) deficiency on lung elastin cross-linking in perinatal and weanling rat pups [PDF]

Biochemical Journal, 1985
Barbara A. Myers, Michael A. Dubick, Robert D. Reynolds, Robert B. Rucker   +3 more
openalex   +2 more sources