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Clinical and Genetic Studies of VACTERL Association

2014-12-08 11:46:13 | BioPortfolio

Published on BioPortfolio: 2014-12-08T11:46:13-0500

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Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of ...

Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities

Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinica...

Adult Congenital Heart Disease Surgery

It is now estimated that the number of adults with congenital heart disease in the U.S is over 800,000. Unfortunately, these patients, in some way, have become a lost population. They hav...

White Matter Hyperintensities Burden in Adult Patients With Cyanotic Congenital Heart Disease: a Pilot Study

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VEPTR Implantation to Treat Children With Early Onset Scoliosis Without Rib Abnormalities

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PubMed Articles [2541 Associated PubMed Articles listed on BioPortfolio]

Relationship between birth weight to placental weight ratio and major congenital anomalies in Japan.

Recent studies have indicated that birth weight to placental weight (BW/PW) ratio is related to perinatal outcomes, but the effect of congenital abnormalities on BW/PW ratio remains unclear. We perfor...

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotypin...

Waardenburg Syndrome and Left Persistent Superior Vena Cava.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient p...

Screening for congenital fetal anomalies in low risk pregnancy: the Kenyatta National Hospital experience.

Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the...

Comparison of echocardiography and 64-slice spiral computed tomography in the diagnosis of congenital heart disease in children.

The diagnosis of congenital heart disease in children has been an issue in the medical community. Timely diagnosis and treatment can provide a greater guarantee for children's healthy growth. In recen...

Medical and Biotech [MESH] Definitions

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.

Congenital abnormalities that affect more than one organ or body structure.

Congenital structural abnormalities of the mouth and jaws, including the dentition.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.

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