Results 91 to 100 of about 1,711 (154)

Atypical Pyridoxine Dependent Epilepsy in a Newborn [PDF]

Pediatric Oncall, 2019
Ravi Teja Jaladi, Shrabani Mondal, Asim Kumar Mallick, Isita Tripathy   +3 more
openaire   +1 more source

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

Annals of the Child Neurology Society
Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen   +6 more
doaj   +1 more source

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. [PDF]

J Inherit Metab Dis, 2023
Crowther LM, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, Mathis D, Plecko B.   +7 more
europepmc   +1 more source

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency. [PDF]

Int J Mol Sci, 2022
Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP.   +8 more
europepmc   +1 more source

Current trends in the treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2009
Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj  

Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy. [PDF]

Anal Chem, 2021
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J.   +16 more
europepmc   +1 more source

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. [PDF]

J Clin Invest, 2021
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL.   +30 more
europepmc   +1 more source

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? [PDF]

PLoS One, 2021
Minenkova A, Jansen EEW, Cameron J, Barto R, Hurd T, MacNeil L, Salomons GS, Mercimek-Andrews S.   +7 more
europepmc   +1 more source

Early-onset pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: the first genetically confirmed case from Palestine. [PDF]

Ann Med Surg (Lond)
Pujee BK, Mujahed R, Thabaineh RW, Ghayyada S, Tbaisha D, Atwan MY, Shawabka AM.   +6 more
europepmc   +1 more source

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. [PDF]

Mol Genet Metab Rep, 2022
Tseng LA, Teela L, Janssen MC, Bok LA, Willemsen MAAP, Neuteboom RF, Haverman L, Gospe SM, Coughlin CR, van Karnebeek CDM.   +9 more
europepmc   +1 more source