Results 101 to 110 of about 2,978 (184)

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

open access: yes, 2013
Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic ...
Mansour H.   +2 more
core  

Pathological Fractures in Rare Bone Diseases: Clinical Cases. [PDF]

open access: yesActa Med Litu
Bottai V   +6 more
europepmc   +1 more source

Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration. [PDF]

open access: yesBioengineering (Basel)
Visibelli A   +6 more
europepmc   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

open access: yesInt J Spine Surg
Sampaio Júnior FAU   +11 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy