Literature DB >> 6749192

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

S Shinnar, H S Singer.   

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Year:  1984        PMID： 6749192     DOI： 10.1056/NEJM198408163110707

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  20 in total

1.  Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.

Authors:  P Augoustides-Savvopoulou; I Mylonas; A C Sewell; D S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Authors:  Luciana Hannibal; Patricia M DiBello; Michelle Yu; Abby Miller; Sihe Wang; Belinda Willard; David S Rosenblatt; Donald W Jacobsen
Journal:  Mol Genet Metab       Date:  2011-03-24       Impact factor: 4.797

3.  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

4.  Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Authors:  Mohammed Almannai; Ronit Marom; Kristian Divin; Fernando Scaglia; V Reid Sutton; William J Craigen; Brendan Lee; Lindsay C Burrage; Brett H Graham
Journal:  Mol Genet Metab       Date:  2017-06-29       Impact factor: 4.797

Review 5.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

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

Review 6.  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

Review 7.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

8.  Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.

Authors:  R Gold; U Bogdahn; L Kappos; K V Toyka; E R Baumgartner; B Fowler; U Wendel
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-01       Impact factor: 10.154

9.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

10.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       Impact factor: 4.982
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