Literature DB >> 15221473

An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.

Peter J Francis1, David M Calver, Peter Barnfield, Charles Turner, R Neil Dalton, Mike P Champion.   

Abstract

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Year:  2004        PMID： 15221473     DOI： 10.1007/s00431-004-1440-y

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  Abuse or metabolic disorder?

Authors:  G F Hoffmann; E R Naughten
Journal:  Arch Dis Child       Date:  1998-04       Impact factor: 3.791

2.  Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

Authors:  A Rossi; R Cerone; R Biancheri; R Gatti; M C Schiaffino; C Fonda; E Zammarchi; P Tortori-Donati
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

3.  Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Authors:  D S Rosenblatt; A L Aspler; M I Shevell; B A Pletcher; W A Fenton; M R Seashore
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

4.  Hyperhomocysteinemia as risk factor for ischemic and hemorrhagic stroke in newborn infants.

Authors:  Marije Hogeveen; Henk J Blom; Marjolein Van Amerongen; Bas Boogmans; Ingrid M Van Beynum; Margot Van De Bor
Journal:  J Pediatr       Date:  2002-09       Impact factor: 4.406
  4 in total
  5 in total

Review 1.  Abusive head trauma: neuroimaging mimics and diagnostic complexities.

Authors:  Jai Sidpra; Sahil Chhabda; Adam J Oates; Aashim Bhatia; Susan I Blaser; Kshitij Mankad
Journal:  Pediatr Radiol       Date:  2021-05-17

Review 2.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

3.  Roth spots in pyridoxine dependent epilepsy.

Authors:  Levinus A Bok; Feico Halbertsma; Frank Kerkhoff; Cornelis Jakobs; Carola Duijsters; Michèl Willemsen
Journal:  BMJ Case Rep       Date:  2011-08-17

4.  Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.

Authors:  Vasiliki Karava; Antonia Kondou; John Dotis; Georgia Sotiriou; Spyridon Gerou; Helen Michelakakis; Euthymia Vargiami; Marina Economou; Dimitrios Zafeiriou; Nikoleta Printza
Journal:  Children (Basel)       Date:  2021-02-05

5.  Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

Authors:  Ester Perales-Clemente; Angela L Hewitt; April L Studinski; Jan-Mendelt Tillema; William J Laxen; Devin Oglesbee; Arne H Graff; Piero Rinaldo; Brendan C Lanpher
Journal:  JIMD Rep       Date:  2020-11-20
  5 in total

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