Biomaterial Database

Prenatal exclusion of Hurler's disease by leucocyte alpha-L-iduronidase assay. 1983

C H Rodeck, and L R Tansley, and P F Benson, and A H Fensom, and M Ellis

UI	MeSH Term	Description	Entries
D007068	Iduronidase	An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.	alpha-L-Idosiduronase,alpha-L-Iduronidase,alpha L Idosiduronase,alpha L Iduronidase
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007962	Leukocytes	White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).	Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008059	Mucopolysaccharidosis I	Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.	Hurler's Syndrome,Hurler-Scheie Syndrome,Lipochondrodystrophy,Mucopolysaccharidosis V,Pfaundler-Hurler Syndrome,Scheie's Syndrome,Gargoylism,Gargoylism, Hurler Syndrome,Hurler Disease,Hurler Syndrome,Hurler's Disease,Mucopolysaccharidosis 1,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis Type I,Mucopolysaccharidosis Type Ih,Mucopolysaccharidosis Type Ih S,Mucopolysaccharidosis Type Is,Scheie Syndrome,alpha-L-Iduronidase Deficiency,Disease, Hurler's,Gargoylisms,Hurler Scheie Syndrome,Hurler Syndrome Gargoylism,Lipochondrodystrophies,Mucopolysaccharidosis I S,Mucopolysaccharidosis Is,Mucopolysaccharidosis Type Ihs,Syndrome, Hurler's,Syndrome, Scheie's,Type Ih, Mucopolysaccharidosis,Type Ihs, Mucopolysaccharidosis,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies
D008297	Male		Males
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
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
D005260	Female		Females
D005332	Fetoscopy	Endoscopic examination, therapy or surgery of the fetus and amniotic cavity through abdominal or uterine entry.	Amnioscopic Surgical Procedures,Amnioscopy,Embryoscopic Surgical Procedures,Embryoscopy,Fetoscopic Surgical Procedures,Surgical Procedures, Amnioscopic,Surgical Procedures, Embryoscopic,Surgical Procedures, Fetoscopic,Amnioscopic Surgery,Embryoscopic Surgery,Fetoscopic Surgery,Surgery, Amnioscopic,Surgery, Embryoscopic,Surgery, Fetoscopic,Amnioscopic Surgeries,Amnioscopic Surgical Procedure,Amnioscopies,Embryoscopic Surgeries,Embryoscopic Surgical Procedure,Embryoscopies,Fetoscopic Surgeries,Fetoscopic Surgical Procedure,Fetoscopies,Procedure, Amnioscopic Surgical,Procedure, Embryoscopic Surgical,Procedure, Fetoscopic Surgical,Procedures, Amnioscopic Surgical,Procedures, Embryoscopic Surgical,Procedures, Fetoscopic Surgical,Surgeries, Amnioscopic,Surgeries, Embryoscopic,Surgeries, Fetoscopic,Surgical Procedure, Amnioscopic,Surgical Procedure, Embryoscopic,Surgical Procedure, Fetoscopic