Literature DB >> 8558138

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

R Gold, U Bogdahn, L Kappos, K V Toyka, E R Baumgartner, B Fowler, U Wendel.   

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Year:  1996        PMID： 8558138      PMCID： PMC486204          DOI： 10.1136/jnnp.60.1.107

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  2 in total

1.  Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

Authors:  R Carmel; D Watkins; S I Goodman; D S Rosenblatt
Journal:  N Engl J Med       Date:  1988-06-30       Impact factor: 91.245

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

Authors:  S Shinnar; H S Singer
Journal:  N Engl J Med       Date:  1984-08-16       Impact factor: 91.245
  2 in total
  12 in total

Review 1.  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 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.  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

Review 4.  Cobalamin C defect: natural history, pathophysiology, and treatment.

Authors:  Diego Martinelli; Federica Deodato; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2010-07-15       Impact factor: 4.982

5.  Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Authors:  Sheng-Jun Wang; Chuan-Zhu Yan; Yi-Ming Liu; Yu-Ying Zhao
Journal:  Metab Brain Dis       Date:  2018-01-26       Impact factor: 3.584

Review 6.  Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Authors:  Martina Huemer; Sabine Scholl-Bürgi; Karine Hadaya; Ilse Kern; Ronny Beer; Klaus Seppi; Brian Fowler; Matthias R Baumgartner; Daniela Karall
Journal:  Orphanet J Rare Dis       Date:  2014-11-15       Impact factor: 4.123

Review 7.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

8.  Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases.

Authors:  Jeremias Motte; Janina Kneiphof; Katrin Straßburger-Krogias; Kalliopi Pitarokoili; Anna Lena Fisse; Ludwig Kappos; Ralf Gold
Journal:  Ther Adv Neurol Disord       Date:  2019-08-24       Impact factor: 6.570

9.  Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Authors:  Xujun Chu; Lingchao Meng; Wei Zhang; Jinjun Luo; Zhaoxia Wang; Yun Yuan
Journal:  Front Neurol       Date:  2020-11-26       Impact factor: 4.003

10.  Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male.

Authors:  Luca Pollini; Manuela Tolve; Francesca Nardecchia; Serena Galosi; Claudia Carducci; Emanuele di Carlo; Carla Carducci; Vincenzo Leuzzi
Journal:  Mol Genet Metab Rep       Date:  2020-01-07
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