[HTML][HTML] Rare, overlooked, or underappreciated causes of recurrent Abdominal Pain: a primer for gastroenterologists

DM Brenner, LJ Brandt, M Fenster, MJ Hamilton… - Clinical …, 2023 - Elsevier
Recurrent abdominal pain is a common reason for repeated visits to outpatient clinics and
emergency departments, reflecting a substantial unmet need for timely and accurate …

Design, implementation, and evaluation of the computer-aided clinical decision support system based on learning-to-rank: collaboration between physicians and …

Y Miyachi, O Ishii, K Torigoe - BMC medical informatics and decision …, 2023 - Springer
Background We are researching, developing, and publishing the clinical decision support
system based on learning-to-rank. The main objectives are (1) To support for differential …

A high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain

C Song, Y Liu - Scientific Reports, 2023 - nature.com
Acute hepatic porphyria (AHP) has always been a diagnostic dilemma for physicians due to
its variable symptoms. Correct diagnosis mainly depends on the detection of an elevated …

Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

KM Córdoba, D Jericó, L Jiang, M Collantes, M Alegre… - Gut, 2024 - gut.bmj.com
Objective Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by
haploinsufficiency of hepatic porphobilinogen deaminase (PBGD), the third enzyme of the …

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient

X Wang, H Zhang, H Huang, W Wang, Y Wen… - Frontiers in …, 2023 - frontiersin.org
Background: Acute intermittent porphyria (AIP) is a rare metabolic disorder that results from
mutations in the gene encoding hydroxymethylbilane synthase (HMBS), an enzyme involved …

Porphyrias: uncommon disorders masquerading as common childhood diseases

A Chakraborty, M Muranjan, S Karande… - Journal of …, 2023 - journals.lww.com
Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme
biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin …

[HTML][HTML] Acute intermittent porphyria: complete phenotype in a patient with p. Arg173Trp variant in Thailand

V Sriprakoon, C Ittagornpunth… - The American Journal …, 2022 - ncbi.nlm.nih.gov
Objective: Rare disease Background: Acute intermittent porphyria (AIP) is a rare genetic
disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme …

Acute porphyria presenting as abdominal pain in pregnancy

QZ Sohail, K Khamisa - CMAJ, 2021 - Can Med Assoc
At 1-month follow-up, the patient's nausea had improved, her pain was well controlled with
minimal analgesia, and her blood pressure and plasma sodium levels had normalized. The …

[PDF][PDF] 急性间歇性卟啉病合并高血压研究进展

曹茜茜, 刘思敏, 任毅, 杨静 - 临床心血管病杂志, 2021 - lcxxgen.whuhzzs.com
随着遗传学, 分子生物学的发展, 急性间歇性卟啉病(AIP) 研究不断深入, AIP
合并高血压日益引起关注. AIP 合并高血压的机制可能有氧化应激, 血管痉挛, 交感神经受刺激 …

Adult-onset seizures as the initial presentation of acute intermittent porphyria

AS Rajapaksha, R Kalupahana, A Fernando… - Journal of the Ceylon …, 2023 - jccp.sljol.info
Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by the deficiency of
enzyme porphobilinogen deaminase used in haeme biosynthesis. Nonspecific abdominal …