Results 121 to 130 of about 19,208 (227)

Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation. [PDF]

open access: yesOxf Med Case Reports
Moshfegh F   +4 more
europepmc   +1 more source

Aceso [PDF]

open access: yes, 2016
Beazley, Robert M.   +7 more
core   +1 more source

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

open access: yesOrphanet J Rare Dis
AlSayed M   +9 more
europepmc   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

open access: yesJIMD Rep
Fiori L   +19 more
europepmc   +1 more source

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