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Table 4 Symptoms and laboratory findings suggestive of metabolic disease other than CF

From: Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

SymptomsLaboratory findings
intense regurgitation and vomiting↑ ammonia
umbilical hernia↑ lactate
postural asymmetry↓alpha-1-antitrypsine
generalized diminished muscle tonemetabolic acidosis
diminished tendon reflexesGC/MS irregularities
 serum amino acids irregularities