Literature DB >> 10472537

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

P Augoustides-Savvopoulou1, I Mylonas, A C Sewell, D S Rosenblatt.   

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Year:  1999        PMID： 10472537     DOI： 10.1023/a:1005508620919

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  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.  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
  2 in total
  12 in total

1.  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

Review 2.  Emerging Concepts in Nutrient Needs.

Authors:  Patrick J Stover; Cutberto Garza; Jane Durga; Martha S Field
Journal:  J Nutr       Date:  2020-10-01       Impact factor: 4.798

Review 3.  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 4.  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

5.  A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.

Authors:  Rajdeep Kaur; Savita Verma Attri; Arushi Gahlot Saini; Naveen Sankhyan
Journal:  Amino Acids       Date:  2021-01-30       Impact factor: 3.520

6.  Treatment of cobalamin C (cblC) deficiency during pregnancy.

Authors:  Catherine Brunel-Guitton; Teresa Costa; Grant A Mitchell; Marie Lambert
Journal:  J Inherit Metab Dis       Date:  2010-09-10       Impact factor: 4.982

7.  Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene.

Authors:  Shengnan Wang; Xu Wang; Jianxin Xi; Wenzhuo Yang; Mingqin Zhu
Journal:  Front Neurol       Date:  2022-07-05       Impact factor: 4.086

8.  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 9.  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

10.  Successful intrauterine treatment of a patient with cobalamin C defect.

Authors:  Friedrich K Trefz; Dagmar Scheible; Georg Frauendienst-Egger; Martina Huemer; Terttu Suomala; Brian Fowler; Dorothea Haas; Matthias R Baumgartner
Journal:  Mol Genet Metab Rep       Date:  2016-02-04
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