Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

scientific article published on 05 August 2013

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.36059
P698PubMed publication ID23918762

P50authorAnn SaadaQ41879584
Irena ManovQ79442599
P2093author name stringEli Sprecher
Ofer Sarig
Hanna Mandel
Dorit Goldsher
Theodore C Iancu
Dana Fuchs-Telem
Janna Nousbeck
Ksenya Cohen-Katsenelson
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
3-methylglutaconic aciduriaQ3598794
P304page(s)2204-2215
P577publication date2013-08-05
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleInfantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1
P478volume161A

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cites work (P2860)
Q94453277A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing
Q38252662An overview of inborn errors of complex lipid biosynthesis and remodelling
Q28387241Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes
Q50435885First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
Q37671957Gastrointestinal manifestations of mitochondrial disorders: a systematic review
Q93101924Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
Q33417443Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
Q34373758Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Q26739994Orphan proteins of unknown function in the mitochondrial intermembrane space proteome: New pathways and metabolic cross-talk
Q47330404Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Q34692029Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase
Q34428030The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations
Q38270108The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
Q50657606The usefulness of whole-exome sequencing in routine clinical practice.
Q37004711Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
Q42396528Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

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