Literature DB >> 7357085

Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.

R Carmel, A A Bedros, J W Mace, S I Goodman.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1980        PMID： 7357085

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


× No keyword cloud information.
  12 in total

1.  Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

Authors:  Pranoot Tanpaiboon; Jennifer L Sloan; Patrick F Callahan; Dorothea McAreavey; P Suzanne Hart; Uta Lichter-Konecki; Dina Zand; Charles P Venditti
Journal:  JIMD Rep       Date:  2012-12-29

2.  Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Authors:  G M Enns; A J Barkovich; D S Rosenblatt; D R Fredrick; K Weisiger; C Ohnstad; S Packman
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

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.  Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

Authors:  Lucas Bonafede; Can H Ficicioglu; Leona Serrano; Grace Han; Jessica I W Morgan; Monte D Mills; Brian J Forbes; Stefanie L Davidson; Gil Binenbaum; Paige B Kaplan; Charles W Nichols; Patrick Verloo; Bart P Leroy; Albert M Maguire; Tomas S Aleman
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-12       Impact factor: 4.799

6.  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

7.  The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Authors:  Jennifer L Sloan; Nathan P Achilly; Madeline L Arnold; Jerrel L Catlett; Trevor Blake; Kevin Bishop; Marypat Jones; Ursula Harper; Milton A English; Stacie Anderson; Niraj S Trivedi; Abdel Elkahloun; Victoria Hoffmann; Brian P Brooks; Raman Sood; Charles P Venditti
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

Review 8.  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

9.  Congenital disorders of vitamin B12 transport and their contributions to concepts. II.

Authors:  C A Hall
Journal:  Yale J Biol Med       Date:  1981 Nov-Dec

Review 10.  Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Authors:  Bodo B Beck; FrancJan van Spronsen; Arjan Diepstra; Rolf M F Berger; Martin Kömhoff
Journal:  Pediatr Nephrol       Date:  2016-06-11       Impact factor: 3.714
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.