Literature DB >> 18605371

Stupor in an adolescent following Yom Kippur fast, due to late-onset ornithine transcarbamylase deficiency.

Nufar Marcus1, Oded Scheuerman, Vered Hoffer, Efrat Zilbershot-Fink, Joel Reiter, Ben Zion Garty.   

Abstract

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Year:  2008        PMID: 18605371

Source DB:  PubMed          Journal:  Isr Med Assoc J            Impact factor:   0.892


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  4 in total

1.  AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.

Authors:  Sandra K Heibel; Peter J McGuire; Nantaporn Haskins; Himani D Majumdar; Sree Rayavarapu; Kanneboyina Nagaraju; Yetrib Hathout; Kristy Brown; Mendel Tuchman; Ljubica Caldovic
Journal:  J Inherit Metab Dis       Date:  2019-08-01       Impact factor: 4.982

Review 2.  Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Authors:  Ljubica Caldovic; Iman Abdikarim; Sahas Narain; Mendel Tuchman; Hiroki Morizono
Journal:  J Genet Genomics       Date:  2015-05-19       Impact factor: 4.275

3.  Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

Authors:  Catia Cavicchi; Maria Donati; Rossella Parini; Miriam Rigoldi; Mauro Bernardi; Francesca Orfei; Nicolò Gentiloni Silveri; Aniello Colasante; Silvia Funghini; Serena Catarzi; Elisabetta Pasquini; Giancarlo la Marca; Sean Mooney; Renzo Guerrini; Amelia Morrone
Journal:  Orphanet J Rare Dis       Date:  2014-07-16       Impact factor: 4.123

4.  Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

Authors:  Christan D Santos; Robert A Ratzlaff; Jennifer C Meder; Paldeep S Atwal; Nicole E Joyce
Journal:  Case Rep Crit Care       Date:  2017-11-27
  4 in total

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