Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria [PDF]
Journal of Inherited Metabolic Disease, 2018 Brenden Chen +7 more
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Characterization of the multiple forms of hydroxymethylbilane synthase from rat spleen [PDF]
Biochemical Journal, 1984 Phenylhydrazine treatment induced hydroxymethylbilane synthase activity (EC 4.3.1.8) in rat spleen, erythrocytes and liver by 40-fold, 7.5-fold and 6-fold respectively. Five multiple forms of the enzyme were resolved by DEAE-cellulose chromatography.
D. Clive Williams
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Time-resolved structural studies of hydroxymethylbilane synthase (HMBS) [PDF]
Acta Crystallographica Section A Foundations of Crystallography, 2002 A. Haedener +10 more
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Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene [PDF]
Genetics in Medicine, 2000 To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase.Mutations were identified by direct solid phase sequencing.Two novel missense mutations E80G and T78P and ...
Risha B. Ramdall +7 more
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Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]
Eur J NeurolABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM +9 more
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Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP) [PDF]
Molecular Medicine, 1999 Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (EC 4.3.1.8; HMB-synthase). This disease is characterized by acute, life-threatening neurologic attacks that are precipitated by various drugs, hormones, and other factors.
Constanza Solis +4 more
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Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]
Clin Case RepClinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Harper P, Törnhage CJ, Sardh E.
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