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Methionine synthase deficiency

Arakawa's Syndrome 2Tetrahydrofolate-methyltransferase deficiency syndromeN5-methylhomocysteine transferase deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Methionine synthase deficiency" returned 0 free, full-text review articles. First 0 results:
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.
Last Updated: Sep 05, 2019

Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified ...

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.
Last Updated: Nov 21, 2013

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Methionine synthase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Methionine synthase deficiency" returned 6 free, full-text research articles. First few results:
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
Last Updated: Jul 08, 2020

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase ...

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.
Last Updated: Nov 13, 2018

Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to ...

Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.
Last Updated: Mar 03, 2017

Functional methionine synthase reductase deficiency, also known as cobalamin E disorder, is a rare autosomal recessive inherited disease that results in an impaired remethylation of homocysteine to methionine. It presents with macrocytic anemia, hyperhomocysteinemia, and hypomethioninemia, ...

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