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Items: 6

1.

Methionine preparation

A sulfur-containing essential L-amino acid that is important in many body functions. [from MeSH]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Hypertension

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
3.

Pulmonary arterial hypertension

MedGen UID:
468368
Concept ID:
C3203102
Disease or Syndrome
4.

Decreased methionine synthase activity

MedGen UID:
376395
Concept ID:
C1848580
Finding
5.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE

The clinical manifestations of disorders of intracellular cobalamin metabolism can be highly variable even within a single complementation group. The prototype and best understood is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range, including: Newborns, who can have intrauterine growth retardation (IUGR) and microcephaly; Infants, who can have poor feeding, failure to thrive, pallor, and neurologic signs, and occasionally hemolytic uremic syndrome (HUS) and/or seizures including infantile spasms; Toddlers, who can have failure to thrive, poor head growth, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures; and Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, and/or subacute combined degeneration of the spinal cord. [from GeneReviews]

MedGen UID:
344426
Concept ID:
C1855128
Disease or Syndrome
6.

Mecobalamin

MedGen UID:
17503
Concept ID:
C0065844
Organic Chemical; Pharmacologic Substance; Vitamin
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