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pipecolic acid/emorragia
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The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings.
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The first Scandinavian cases of Zellweger syndrome (ZS) are described. A brother and sister, children of first cousins, had the typical clinical symptoms and pathological findings. Extensive metabolic studies in the boy were negative. Pipecolic acid in the urine was not elevated. Both children died
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
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We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. Two patients had intracranial hemorrhage secondary to a vitamin
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
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Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in
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