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Results 1 - 10 of 14 for Congenital metabolic disorder
  1. ... joint, although there are other causes such as congenital defects, trauma and metabolic disorders. Joints appear larger, are stiff and painful and ...
  2. ... Inherited muscle disorders such as muscular dystrophy or congenital myopathy Metabolic defects of the muscle Effects of medicines, toxins, or electrolyte disorders A muscle biopsy may also be done to ...
  3. ... in the diagnosis and treatment of infants with congenital ... with blood disorders and types of cancer. This type of doctor ...
  4. ... 103.15. Vanderver A, Wolf NI. Genetic and metabolic disorders of the ... of congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, ...
  5. ... assays (blood tests to measure specific enzyme levels) Metabolic studies X-rays
  6. Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland . ... in both males and females. Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21- ...
  7. Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to ... blood tests, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. ...
  8. ... that may be done include: Blood gases Comprehensive metabolic panel Porphyrin levels and levels of other chemicals linked to this condition (checked in the blood or urine ) Ultrasound of the abdomen Urinalysis
  9. ... large portion of the brain) Down syndrome Rare metabolic disorders that are passed down through families Other genetic ... 10. Dugoff L, Wapner RJ. Prenatal diagnosis of congenital disorders. In: Lockwood CJ, Copel JA, Dugoff L, ...
  10. ... Philadelphia, PA: Elsevier; 2020:chap 701. Mauck BM. Congenital anomalies of the hand. In: Azar FM, Beaty ... 2021:chap 80. Son-Hing JP, Thompson GH. Congenital abnormalities of the upper and lower extremities and ...
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