Results 131 to 140 of about 11,286 (212)
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2018 Summary: Most enzyme deficiencies in humans are inherited as autosomal recessive traits. The term dominant negative is applied to mutant alleles in which a mutant protein interferes in one way or another with the function of the normal protein being ...
Baumgartner, M.
core
Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion
, 2020 Anis Cerovac +4 more
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Acute Porphyria with Severe Neurological Changes [PDF]
, 1950 L. G. Kiloh, Suzanne M. Nevin
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Comparative Study of Two Screening Tests for Urinary Porphyrins in the Diagnosis of Porphyrias
Siriraj Medical Journal, 2005 Objective: To evaluate the efficiency of two urinary porphyrins screening tests: routine fluorescent detection and semi quantitative spectrophotometric scanning.
Sarawut Junnu +5 more
doaj
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria [PDF]
, 2018 Brenden Chen +7 more
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Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
doaj
The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report [PDF]
, 2023 Umar Maqbool +4 more
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