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This is a shortened version of the fifteenth chapter of the ICD-9: Certain Conditions originating in the Perinatal Period. It covers ICD codes 760 to 779. The full chapter can be found on pages 439 to 453 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
The D-bifunctional protein is composed of three enzymatic domains: the N-terminal short chain alcohol dehydrogenase reductase (SDR), central hydratase domain, and the C-terminal sterol carrier protein 2 (SDR).
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis .
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
Infant respiratory distress syndrome (IRDS), also known as surfactant deficiency disorder (SDD), [2] and previously called hyaline membrane disease (HMD), is a syndrome in premature infants caused by developmental insufficiency of pulmonary surfactant production and structural immaturity in the lungs.
Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin.NDM is a kind of diabetes that is monogenic (regulated by a single gene) and arises in the first 6 months of life.
A commonly identified copy number variants (CNVs) deletion of 17q12 is present in both type 1 and type 2 MRKH patients. The deletion of 17q12 results in a loss of 2 specific genes, HNFB and LHX1 at position q12 on chromosome 17 which are linked to Müllerian anomalies. Most 17q12 deletions result from genetic mutations in people with no known ...
Prenatal onset may present with non-specific signs such as low Apgar scores and small for gestational age. These cases display hydrocephalus, and thinning of the cerebral tissue. [ 7 ] Metabolic disturbances may also be considered with poor feeding and lethargy out of proportion to a mild viral illness, and especially after bacterial infection ...