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Noonan Syndrome - American Family Physician

Jan 1, 2014 - Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high...

American Family Physician : Article

https://www.aafp.org/afp/2014/0101/p37.html

Inborn Errors of Metabolism: From Preconception to Adulthood - American Family Physician

Jan 1, 2019 - Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening. For individuals ...

American Family Physician : Article

https://www.aafp.org/afp/2019/0101/p25.html

Expanded Newborn Screening: Information and Resources for the Family Physician - ...

Jun 1, 2017 - Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own ...

American Family Physician : Article

https://www.aafp.org/afp/2017/0601/p703.html

Diagnosis and Management of G6PD Deficiency - American Family Physician

Oct 1, 2005 - Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder ...

American Family Physician : Article

https://www.aafp.org/afp/2005/1001/p1277.html

Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family...

Jun 1, 2006 - Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0601/p1981.html

Issues in Newborn Screening for Phenylketonuria - American Family Physician

Oct 1, 1999 - The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test ...

American Family Physician : Article

https://www.aafp.org/afp/1999/1001/p1462.html

The CDC's EGAPP Initiative: Evaluating the Clinical Evidence for Genetic Tests - ...

Dec 1, 2009 - Advertisement << Previous article Next article >> Dec 1, 2009 Issue Editorials The CDC's EGAPP Initiative: Evaluating the Clinical Evidence for Genetic Tests ALFRED O. BERG, MD, MPH, University of Washington, Seattle, Washington Am Fam Physician. 2009 Dec 1;80(11):1218-1220. Family...

American Family Physician : Editorials

https://www.aafp.org/afp/2009/1201/p1218.html

Practice Guidelines - Apr 15, 2006 - American Family Physician

Apr 15, 2006 - The American College of Obstetricians and Gynecologists (ACOG) has released recommendations for screening for Tay-Sachs disease.

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2006/0415/p1471a.html

Practice Guidelines - Apr 15, 2006 - American Family Physician

Apr 15, 2006 - The American College of Obstetricians and Gynecologists (ACOG) has released an opinion statement on issues specific to pregnancy in obese women. Women who are obese are at increased risk of complications of pregnancy such as gestational hypertension and diabetes, preeclampsia, fetal ...

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2006/0415/p1471.html

NIH Consensus Statement on Phenylketonuria - Practice Guidelines - American Family ...

Apr 1, 2001 - The National Institutes of Health (NIH) has released a statement on the screening and management of phenylketonuria (PKU). PKU, a form of hyperphenylalaninemia, is a rare metabolic disorder that is caused by a deficiency of the liver enzyme phenylalanine hydroxylase.

American Family Physician : Practice Guidelines

https://www.aafp.org/afp/2001/0401/p1430.html

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