Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations-Reference-Cited by-同舟云学术

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Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations

Published:2017-11 Issue:8 Volume:39 Page:e430-e436
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

Nashabat Marwan,Maegawa Gustavo,Nissen Peter H.,Nexo Ebba,Al-Shamrani Hussain,Al-Owain Mohammed,Alfadhel Majid

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference34 articles.

1. Vitamin b12 transport from food to the body’s cells—a sophisticated, multistep pathway;Nielsen;Nat Rev Gastroenterol Hepatol,2012

2. The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin;Quadros;Blood,2009

3. Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblc cells;Mellman;J Biol Chem,1979

4. Synthesis of cobalamin coenzymes by human lymphocytes in vitro and the effect of folates and metabolic inhibitors;Quadros;Blood,1976

5. New disorder of vitamin b12 metabolism (cobalamin f) presenting as methylmalonic aciduria;Rosenblatt;Pediatrics,1986

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1. From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia;Children;2024-08-14

2. Congenital neutropenia: From lab bench to clinic bedside and back;Mutation Research/Reviews in Mutation Research;2024-01

3. A Review of the Nutritional Approach and the Role of Dietary Components in Children with Autism Spectrum Disorders in Light of the Latest Scientific Research;Nutrients;2023-11-21

4. “Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”;Molecular Genetics & Genomic Medicine;2023-10-06

5. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders;Genes;2023-03-27

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