HIBMHope of Israel Baptist Mission (United States of America)
HIBMHereditary Inclusion Body Myopathy
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Patients with HIBM also have a defect in the gene coding for the enzyme GNE/ MNK, which is a bifunctional enzyme that catalyzes the first 2 steps in the biosynthesis of CMP-NeuAc.
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.
M2 PHARMA-August 15, 2011-Ultragenyx begins Phase I clinical study of UX001 for HIBM treatment(C)2011 M2 COMMUNICATIONS