Literature DB >> 10384379

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

R Cerone1, M C Schiaffino, U Caruso, S Lupino, R Gatti.   

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Year:  1999        PMID： 10384379     DOI： 10.1023/a:1005521702298

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


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  4 in total

1.  Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.

Authors:  C Bellini; R Cerone; W Bonacci; U Caruso; C P Magliano; G Serra; B Fowler; C Romano
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

2.  [Neonatal hemolytic and uremic syndrome, methylmalonic aciduria and homocystinuria due to intracellular vitamin B12 deficiency].

Authors:  R Cerone; G Barbano; L Maritano; F Perfumo; U Caruso; G Gusmano; C Romano
Journal:  Arch Pediatr       Date:  1994-08       Impact factor: 1.180

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.  New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.

Authors:  D S Rosenblatt; R Laframboise; J Pichette; P Langevin; B A Cooper; T Costa
Journal:  Pediatrics       Date:  1986-07       Impact factor: 7.124
  4 in total
  7 in total

1.  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

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

Review 3.  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

4.  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

5.  Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Authors:  Anita M Quintana; Elizabeth A Geiger; Nate Achilly; David S Rosenblatt; Kenneth N Maclean; Sally P Stabler; Kristin B Artinger; Bruce Appel; Tamim H Shaikh
Journal:  Dev Biol       Date:  2014-10-02       Impact factor: 3.582

6.  A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Authors:  Irini Manoli; Jennifer G Myles; Jennifer L Sloan; Nuria Carrillo-Carrasco; Eva Morava; Kevin A Strauss; Holmes Morton; Charles P Venditti
Journal:  Genet Med       Date:  2015-08-13       Impact factor: 8.822

7.  Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.

Authors:  Taylor E Petropoulos; Maria Erika Ramirez; John Granton; Christoph Licht; Rohan John; Yasbanoo Moayedi; Chantal F Morel; Rory F McQuillan
Journal:  Clin Kidney J       Date:  2017-10-26
  7 in total

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