11 research outputs found
Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS
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PENDING FEATURES OF REFRACTORY HYPERTROPHIC OBSTRUCTS CARDIOMYOPATHY WITH PULMONARY HYPERTENSION
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Changes in urinary level and configuration ratio of d-lactic acid in patients with short bowel syndrome
No full textStability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I
No full textRapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography–mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency
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Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders
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