Delta aminolevulinate dehydratase (ALA-D) activity in human and experimental diabetes mellitus
B Fernandez-Cuartero, JL Rebollar, A Batlle… - The international journal …, 1999 - Elsevier
The haem pathway is impaired in porphyrias and a frequent coexistence of diabetes mellitus
and porphyria disease has been reported. We have therefore decided to investigate delta …
and porphyria disease has been reported. We have therefore decided to investigate delta …
The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, the enzyme that is deficient in intermittent acute porphyria
PV Tishler - Life sciences, 1999 - Elsevier
Drugs and toxins precipitate life-threatening acute attacks in patients with intermittent acute
porphyria. These materials may act by directly inhibiting enzyme activity, thus further …
porphyria. These materials may act by directly inhibiting enzyme activity, thus further …
Seven novel mutations in Bulgarian patients with acute hepatic porphyrias (AHP)
S Dragneva, M Szyszka-Niagolov, A Ivanova… - JIMD Reports Volume …, 2014 - Springer
Acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria
(HCP) are caused by mutations in the hydroxymethylbilane synthase (HMBS) …
(HCP) are caused by mutations in the hydroxymethylbilane synthase (HMBS) …
[PDF][PDF] TBX7 Mutation ldentified by Exome Sequencing in a Japanese Family with 22q11. 2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia
R Funayama, K Nakayama, S Nakashima, F Kato… - Science, 1965 - mhlw-grants.niph.go.jp
Chromosome 22q11. 2 deletion syndrome (22ql l. 2DS) is a developmental disorder
associated with characteristic craniofacial features with velopharyngeal incompetence …
associated with characteristic craniofacial features with velopharyngeal incompetence …