Literature DB >> 20142522

Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

Fernando D Testai1, Philip B Gorelick.   

Abstract

Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, and urea cycle disorders.

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Year:  2010        PMID: 20142522     DOI: 10.1001/archneurol.2009.333

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  30 in total

1.  Cerebral sinovenous thrombosis in a child with homocystinuria.

Authors:  J N Goswami; T V S P Murthy; Daljit Singh; Vikas Raj
Journal:  Med J Armed Forces India       Date:  2013-05-10

2.  Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Authors:  Ana Marcão; María L Couce; Célia Nogueira; Helena Fonseca; Filipa Ferreira; José M Fraga; M Dolores Bóveda; Laura Vilarinho
Journal:  JIMD Rep       Date:  2015-02-01

Review 3.  Diagnosis of dystonic syndromes--a new eight-question approach.

Authors:  Kelly L Bertram; David R Williams
Journal:  Nat Rev Neurol       Date:  2012-03-20       Impact factor: 42.937

Review 4.  The spectrum of CNS vasculitis in children and adults.

Authors:  Marinka Twilt; Susanne M Benseler
Journal:  Nat Rev Rheumatol       Date:  2011-12-20       Impact factor: 20.543

5.  Involvement of endoplasmic reticulum stress in homocysteine-induced apoptosis of osteoblastic cells.

Authors:  Su-Jung Park; Ki-Jo Kim; Wan-Uk Kim; Il-Hoan Oh; Chul-Soo Cho
Journal:  J Bone Miner Metab       Date:  2012-01-06       Impact factor: 2.626

Review 6.  Pharmacogenomic testing for neuropsychiatric drugs: current status of drug labeling, guidelines for using genetic information, and test options.

Authors:  Katarzyna Drozda; Daniel J Müller; Jeffrey R Bishop
Journal:  Pharmacotherapy       Date:  2014-02       Impact factor: 4.705

7.  Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant.

Authors:  Seung Jin Kim; Beom Hee Lee; Yoo-Mi Kim; Gu-Hwan Kim; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2013-03-23       Impact factor: 3.584

Review 8.  [Genetics of ischemic stroke].

Authors:  A Gschwendtner; M Dichgans
Journal:  Nervenarzt       Date:  2013-02       Impact factor: 1.214

9.  Peripheral nerve involvement in classic homocystinuria: an unusual association.

Authors:  Miguel Oliveira Santos; Ruth Geraldes; Isabel Conceição
Journal:  BMJ Case Rep       Date:  2016-09-28

Review 10.  Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Authors:  Nishitha R Pillai; Bridget M Stroup; Anna Poliner; Linda Rossetti; Brandy Rawls; Brian J Shayota; Claudia Soler-Alfonso; Hari Priya Tunuguntala; John Goss; William Craigen; Fernando Scaglia; V Reid Sutton; Ryan Wallace Himes; Lindsay C Burrage
Journal:  Mol Genet Metab       Date:  2019-11-07       Impact factor: 4.797

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