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Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. … Phenylketonuria … disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine … screening testing that is done shortly after birth on a blood sample (heel stick). However, PKU should be considered …
Health FAQ
Discuss these questions with your doctor or health care provider.
… cell disease. The treatment may stop the sickling of cells and improve the lifespan of red blood cells . It may reduce complications of sickled cells … loss and mouth ulcers. Chemotherapy also leads to fewer white blood cells , which puts you at a higher risk of …
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… History … Cancer is a disease in which some of the body’s cells grow uncontrollably. There are many different types of …
Educational Resources
A phenotype is an individual's observable traits, such as height, eye color, and blood type.
… observable traits, such as height, eye color, and blood type. … Gene, Heterozygous, Homozygous, Allele, Trait, … observable traits, such as height, eye color and blood type. A person’s phenotype is determined by both their … observable traits, such as height, eye color, and blood type. … Educational Resources …
Educational Resources
Centrioles are paired barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope.
… organelles located in the cytoplasm of animal cells near the nuclear envelope. … Cell Biology, Organelles, … organelles located in the cytoplasm of animal cells near the nuclear envelope. Centrioles play a role in … organelles located in the cytoplasm of animal cells near the nuclear envelope. … Educational Resources …
Educational Resources
Endoplasmic reticulum is a network of membranes inside a cell through which proteins and other molecules move.
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… ask you to share your medical records and will send you a blood collection kit so that you can mail us some blood samples.     How often will I have to come to the NIH?  … repeat your evaluation.   … A study exploring how prenatal blood test results for the baby might also detect cancer in …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… causes low levels of, or no, alpha-1 antitrypsin in the blood. … Alpha-1 antitrypsin deficiency (AATD) is an … low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. … liver disease can include a swollen abdomen, coughing up blood, swollen feet or legs, and yellowing of the skin and …
Educational Resources
Cytoplasm is the gelatinous liquid that fills the inside of a cell. It is composed of water, salts, and various organic molecules.
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.