BIOMAT Database Logo BIOMAT Database Logo

[A family with galactosemia and "Duarte variant"]. 1972

G Haschemian, and F Menne

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008967 Molecular Biology A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules. Biochemical Genetics,Biology, Molecular,Genetics, Biochemical,Genetics, Molecular,Molecular Genetics,Biochemical Genetic,Genetic, Biochemical,Genetic, Molecular,Molecular Genetic
D009713 Nucleotidyltransferases A class of enzymes that transfers nucleotidyl residues. EC 2.7.7. Nucleotidyltransferase
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010710 Phosphates Inorganic salts of phosphoric acid. Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004796 Clinical Enzyme Tests Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status. Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme

Related Publications

G Haschemian, and F Menne
[Classical galactosemia and the Duarte variant of transferase in a family].
January 1978, Acta medica Iugoslavica,
G Haschemian, and F Menne
Transferase-deficiency galactosemia and the Duarte variant.
January 1987, JAMA,
G Haschemian, and F Menne
Molecular basis for Duarte and Los Angeles variant galactosemia.
February 1997, American journal of human genetics,
G Haschemian, and F Menne
Transient developmental delays in infants with Duarte-2 variant galactosemia.
January 2021, Molecular genetics and metabolism,
G Haschemian, and F Menne
[Association of classical galactosemia and a variant from the Duarte type in a family of galactosemics].
February 1971, Archives francaises de pediatrie,
G Haschemian, and F Menne
Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996.
January 1977, Cytogenetics and cell genetics,
G Haschemian, and F Menne
[Gene frequency of hereditary galactosemia with reference to the Duarte variant].
January 1972, Zeitschrift fur Kinderheilkunde,
G Haschemian, and F Menne
Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant.
January 1973, Israel journal of medical sciences,
G Haschemian, and F Menne
Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia.
May 1982, The Journal of pediatrics,
G Haschemian, and F Menne
Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
December 2012, Biochemical genetics,
Copied contents to your clipboard!