Update on transcobalamin deficiency: Clinical presentation, treatment and outcome. [miami.pure.elsevier.com]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]

Kelman: New York Methodist Hospital: Patent application on work presented here. © 2009 by The American Society of Hematology [bloodjournal.org]

Conclusion: A clinical presentation, suggestive of a hematological disorder turned out to be an inborn error of metabolism. A broad differential diagnosis is essential in pancytopenia with respect to treatment, prognosis and family planning. [thieme-connect.com]

Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. [ingentaconnect.com]

• Epilepsy

  […] pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy [books.google.com]

• Encephalopathy

  Severe encephalopathy is a frequent clinical feature; biochemical hallmark is increased urinary methylmalonate excretion. [thieme-connect.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Update on transcobalamin deficiency: Clinical presentation, treatment and outcome. [miami.pure.elsevier.com]

This text also discusses the various applications of biochemistry as regards environmental hazards, as well as in the diagnosis of illnesses and their treatment. [books.google.com]

Oral treatment or treatment with cyanocobalamin instead of hydroxocobalamin may result in poorer outcomes. [orpha.net]

A broad differential diagnosis is essential in pancytopenia with respect to treatment, prognosis and family planning. [thieme-connect.com]

Prognosis TC is a severe, life-threatening and rapidly progressing disease. Treatment, started early, is highly effective and reverses the clinical and hematological manifestations of the disease. [orpha.net]

People with pernicious anaemia are at increased risk of developing gastric cancer. [ 11 ] Prognosis Before the advent of treatment with B12, the disease was fatal. Hence the name 'pernicious'. [patient.info]

Etiology TC is caused by mutations in the TCN2 gene (22q12.2) which encodes transcobalamin, a transporter of cobalamin (vitamin B12). [orpha.net]

Causes of Vitamin B 12 Deficiency States Once vitamin B 12 deficiency is confirmed, a search for the etiology should be initiated. [aafp.org]

SNPs for TCN1 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCN1 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for TCN1 Genetic Association Database (GAD) TCN1 Human Genome Epidemiology [genecards.org]

Summary Epidemiology To date, more than 40 cases of TC have been described in the literature. Clinical description TC typically manifests in the first few months of life. [orpha.net]

Epidemiology [ 1 ] The incidence of pernicious anaemia in the UK population is estimated to lie between 1-5/100,000 per annum. [ 3 ] The disease occurs in all races. [patient.info]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

It also prevents accumulation of homocysteine. [orpha.net]

Policy Statement: Folic Acid for the Prevention of Neural Tube Defects. Pediatrics. 1999;104(2):325–327. Reaffirmed May 2012. Pp. 325 -327. Available online at http://pediatrics.aappublications.org/content/104/2/325.full. Accessed March 2015. [labtestsonline.it]

One hospital required patient anonymity, which prevented follow-up or ascertainment of clinical and demographic information. [clinchem.aaccjnls.org]

Similar to folic acid deficiency, vitamin B 12 deficiency produces hyperhomocys-teinemia, which is an independent risk factor for atherosclerotic disease. 7 Although the role of folic acid supplementation in reducing homocysteine levels as a method for preventing [aafp.org]

To prevent sedentary activity at nonexercise times, all participants were provided with a hip-worn pedometer (AccuSTEP 400; ACCUSPLIT) and were instructed to accumulate at least 10,000 steps/d throughout the trial. [ajcn.nutrition.org]