Results 81 to 90 of about 2,691 (207)

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Quiste gaseoso intrarraquídeo lumbar con síndrome radicular asociado: aportación de cuatro casos [PDF]

, 1995
Los autores aportan cuatro casos de síndrome radicular secundarios a una compresión radicular por quiste gaseosos intrarraquídeo extradural. El método de diagnóstico ha sido exploración con TAC y con RM. La presencia de gas intrarraquídeo es discutido en
Herrero Mateo, L. M., Moldenhauer, J. F. G.   +1 more
core  

Case Report: Ochronotic arthropathy mimicking spondyloarthritis: a case-based review of diagnostic pitfalls and a novel likely pathogenic HGD variant

Frontiers in Genetics
BackgroundAlkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by homogentisate 1,2-dioxygenase (HGD) deficiency, leading to pigment deposition and progressive ochronotic arthropathy (OchA), which may mimic chronic inflammatory or ...
Zhicheng Liu, Xinyu Xu, Yifan Yang, Sha Li, Ru Bai, Zhenghua Zhang, Yulong Guo, Ruomei Cui, Jian Xu, Shuang Liu   +9 more
doaj   +1 more source

A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy

Indian Journal of Radiology and Imaging, 2013
This study describes a group of 26 patients with ochronotic spondyloarthropathy who were on regular treatment and follow-up at a tertiary level hospital and proposes a simplified staging system for ochronotic spondyloarthropathy based on radiographic ...
Isaac Jebaraj, Binita Riya Chacko, George Koshy Chiramel, Thomas Matthai, Apurve Parameswaran   +4 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Pengaruh Pemberian Hidrokuinon terhadap Perkembangan Fetus Mencit (Mus Musculus L.) Swiss Webster [PDF]

, 2016
Penelitian ini bertujuan untuk mengetahui pengaruh pemberian hidrokuinon terhadap perkembangan fetus mencit. Penelitian dilakukan pada bulan Februari-April 2014 di Laboratorium Penelitian dan Pengujian terpadu Universitas Gadjah Mada Yogyakarta ...
Rubiyati, R. (Rubiyati)
core  

Oligochaeta fajok idegrendszerének immunhisztológiai vizsgálata [PDF]

, 2003
6
Lubics Andrea
core  

An unusual cause of chronic low back pain: ochronosis

The Pan African Medical Journal, 2017
A 45-year-old man presented with low back pain evolving since 8 years associated sometimes with a radicular radiation. The clinical examination found a patient in good general condition, a loss of the lumbar lordosis, an exaggeration of the dorsal ...
Zeineb Alaya, Anis Mzabi
doaj   +1 more source

Perioperative management of patient with alkaptonuria and associated multiple comorbidities

Journal of Anaesthesiology Clinical Pharmacology, 2011
Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism characterized by a triad of homogentisic aciduria, ochronosis, and arthritis. The most common clinical manifestations of ochronosis involve the musculoskeletal, respiratory, airway,
Ravindra Pandey, Anil Kumar, Rakesh Garg, Puneet Khanna, Vanlal Darlong   +4 more
doaj   +1 more source

Sequential tendon ruptures in ochronosis: case report [PDF]

, 2017
Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in
Kumar, E. G. Mohan, Kumar, G. M. Yathisha   +1 more
core   +2 more sources