Literature DB >> 33231183

Early Onset Predominantly Diffuse Lung Disease in an Infant of Combined Methylmalonic Acidemia With Hyperhomocysteinemia Cobalamin C Type.

Chenmei Zhang1.   

Abstract

Entities:  

Year:  2020        PMID： 33231183      PMCID： PMC7678578     

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


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  6 in total

1.  Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Authors:  Fei Wang; Lianshu Han; Yanling Yang; Xuefan Gu; Jun Ye; Wenjuan Qiu; Huiwen Zhang; Yafen Zhang; Xiaolan Gao; Yu Wang
Journal:  J Inherit Metab Dis       Date:  2010-10-06       Impact factor: 4.982

2.  Methylmalonic acidemia with emergency hypertension.

Authors:  Bahareh Yaghmaei; Parastoo Rostami; Farnaz Najmi Varzaneh; Behdad Gharib; Behnaz Bazargani; Nima Rezaei
Journal:  Nefrologia       Date:  2015-10-30       Impact factor: 2.033

3.  Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Authors:  Chantal F Morel; Jordan P Lerner-Ellis; David S Rosenblatt
Journal:  Mol Genet Metab       Date:  2006-05-22       Impact factor: 4.797

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.  Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.

Authors:  R Agarwal; G L Feldman; J Poulik; D W Stockton; B G Sood
Journal:  J Neonatal Perinatal Med       Date:  2014-01-01

6.  Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

Authors:  Jinrong Liu; Yun Peng; Nan Zhou; Xiaorong Liu; Qun Meng; Hui Xu; Shunying Zhao
Journal:  Orphanet J Rare Dis       Date:  2017-03-21       Impact factor: 4.123
  6 in total

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