HIBM

AcronymDefinition
HIBMHope of Israel Baptist Mission (United States of America)
HIBMHereditary Inclusion Body Myopathy
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On a yearly basis, the HIBM services 250 jet engines of 27 various types while overhauling, replacing and repairing more than 35,000 parts The HIBM is the first military-industrial entity in Europe to receive an AS9110 certificate, which is the industry-recognized standard of quality and risk management in aerospace maintenance, repair and overhaul.
Three defects affecting sialylation are known to date: CDG-IIf, HIBM, and sialuria.
[6] Nonstandard abbreviafions: CDG, congenital disorders of glycosylation; TIEF, transferrin isoelectric focusing; ApoC-III, apolipoprotein C-III; IEF, isoelectric focusing; Ga1NAc, N-acetylgalactosamine; NeuAc, sialic acid; FTC, familial tumoral calcinosis (MIM 211900); HIBM, hereditary inclusion body myopathy (MIM 600737); MEB, muscle-eye-brain disease (MIM 253280); HUS, hemolyfic uremic syndrome; HGPS, Hutchinson Gilford progeria syndrome (MIM 176670), F5FSD, a combined deficiency of factor V and factor VIII (MIM 227300); ER, endoplasmic reficulum; COG7, conserved oligomeric Golgi complex; CMP-NeuAc: cytidine 5'monophospho-N-acetylneuraminic acid; GNE/MNK, uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GALNT3, UDP-Ga1NAc transferase 3.
UX001 is an extended release formulation of sialic acid (SA-ER) intended as a substrate replacement therapy for HIBM, a severe, progressive, genetic neuromuscular disease caused by sialic acid deficiency.
Mutations in GNE/MNK have been described in hereditary inclusion body myopathy (hIBM), in distal myopathy with rimmed vacuoles (DMRV), and in sialuria.
Laboratory findings: Histologically, the muscle fibers degenerate and form rimmed vacuoles in hIBM and DMRV, especially in the atrophic areas (177, 178).
M2 PHARMA-August 15, 2011-Ultragenyx begins Phase I clinical study of UX001 for HIBM treatment(C)2011 M2 COMMUNICATIONS
15 August 2011 - US-based biotechnology company Ultragenyx Pharmaceutical Inc announced today that it has initiated dosing of the first patient in a Phase 1 study of UX001 for hereditary inclusion body myopathy (HIBM).
UX001 is an extended release formulation of sialic acid intended as a substrate replacement therapy for HIBM, a severe, progressive, genetic neuromuscular disease caused by sialic acid deficiency.