Literature DB >> 33593863

Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.

Karthik Muthusamy1, Suzanne Boyer1, Marc Patterson1, Jorgen Bierau1, Saskia Wortmann1, Eva Morava2.   

Abstract

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Year:  2021        PMID： 33593863      PMCID： PMC8312857          DOI： 10.1212/WNL.0000000000011719

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   11.800


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  2 in total

1.  Recessive ITPA mutations cause an early infantile encephalopathy.

Authors:  Sietske H Kevelam; Jörgen Bierau; Ramona Salvarinova; Shakti Agrawal; Tomas Honzik; Dennis Visser; Marjan M Weiss; Gajja S Salomons; Truus E M Abbink; Quinten Waisfisz; Marjo S van der Knaap
Journal:  Ann Neurol       Date:  2015-08-21       Impact factor: 10.422

2.  ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Authors:  Mark T Handley; Kaalak Reddy; Jimi Wills; Elisabeth Rosser; Archith Kamath; Mihail Halachev; Gavin Falkous; Denise Williams; Phillip Cox; Alison Meynert; Eleanor S Raymond; Harris Morrison; Stephen Brown; Emma Allan; Irene Aligianis; Andrew P Jackson; Bernard H Ramsahoye; Alex von Kriegsheim; Robert W Taylor; Andrew J Finch; David R FitzPatrick
Journal:  PLoS Genet       Date:  2019-03-11       Impact factor: 5.917
  2 in total
  3 in total

1.  Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Authors:  Marcello Scala; Saskia B Wortmann; Namik Kaya; Menno D Stellingwerff; Angela Pistorio; Emma Glamuzina; Clara D van Karnebeek; Cristina Skrypnyk; Katarzyna Iwanicka-Pronicka; Dorota Piekutowska-Abramczuk; Elżbieta Ciara; Frederic Tort; Beth Sheidley; Annapurna Poduri; Parul Jayakar; Anuj Jayakar; Jariya Upadia; Nicolette Walano; Tobias B Haack; Holger Prokisch; Hesham Aldhalaan; Ehsan G Karimiani; Yilmaz Yildiz; Ahmet C Ceylan; Teresa Santiago-Sim; Amy Dameron; Hui Yang; Mehran B Toosi; Farah Ashrafzadeh; Javad Akhondian; Shima Imannezhad; Hanieh S Mirzadeh; Shazia Maqbool; Aisha Farid; Mohamed A Al-Muhaizea; Meznah O Alshwameen; Lama Aldowsari; Maysoon Alsagob; Ashwaq Alyousef; Rawan AlMass; Aljouhra AlHargan; Ali H Alwadei; Maha M AlRasheed; Dilek Colak; Hanan Alqudairy; Sameena Khan; Matthew A Lines; M Ángeles García Cazorla; Antonia Ribes; Eva Morava; Farah Bibi; Shahzad Haider; Matteo P Ferla; Jenny C Taylor; Hessa S Alsaif; Abdulwahab Firdous; Mais Hashem; Chingiz Shashkin; Kairgali Koneev; Rauan Kaiyrzhanov; Stephanie Efthymiou; Queen Square Genomics; Thomas Schmitt-Mechelke; Andreas Ziegler; Mahmoud Y Issa; Hasnaa M Elbendary; Pasquale Striano; Fowzan S Alkuraya; Maha S Zaki; Joseph G Gleeson; Tahsin Stefan Barakat; Jorgen Bierau; Marjo S van der Knaap; Reza Maroofian; Henry Houlden
Journal:  Hum Mutat       Date:  2022-01-12       Impact factor: 4.700

2.  ITPA Related Developmental Encephalopathy: Key Role of Neuroimaging.

Authors:  Dilek Çavuşoğlu; Melike Ataseven Kulali; Nihal Olgaç Dündar; Cigdem Ozer Gokaslan; Kurşad Aydin
Journal:  Ann Indian Acad Neurol       Date:  2022-02-18       Impact factor: 1.383

3.  Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.

Authors:  Anish Tamrakar; Anjali Kale; Suvarna Magar; Ajay Kale; Vinod Ingale; Nilesh Shewale; Madhuri Engade; Madhavi Shelke
Journal:  Cureus       Date:  2022-07-21
  3 in total

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