[Current problems in the detection of inborn errors of metabolism using screening tests in newborns].
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Biomedical subjects
Publications and source records attributed to K Hübschmann.
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Review of a rare multisystem disorder with the main symptoms achalasia of the esophagus, alacrimia and glucocorticoid deficiency as well as multiple other symptoms especially of the nervous system. Report of one case diagnosed in the age of 11.5 years with a case history of about 7 years. Description of the danger to live of the affected patients primarily by the underlying glucocorticoid deficiency in various stages with bearing the peril of hypoglycemic shock and even death after heavy stress conditions.
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