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Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities

2014-12-05 09:52:33 | BioPortfolio

Published on BioPortfolio: 2014-12-05T09:52:33-0500

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"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"

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Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

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Impact of Exercise/Sport on Well-being in Congenital Bleeding Disorders.

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CONGENITAL HYPOTHYROIDISM AS A RISK FACTOR FOR CENTRAL HEARING PROCESS DISORDERS.

To investigate the presence of central auditory processing disorder symptoms in children with congenital hypothyroidism.

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders.

Congenital tracheal malformations.

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Medical and Biotech [MESH] Definitions

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)

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