Citations to this article

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
R Niehues, … , H K Harms, T Marquardt
R Niehues, … , H K Harms, T Marquardt
Published April 1, 1998
Citation Information: J Clin Invest. 1998;101(7):1414-1420. https://doi.org/10.1172/JCI2350.
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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Abstract

Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.

Authors

R Niehues, M Hasilik, G Alton, C Körner, M Schiebe-Sukumar, H G Koch, K P Zimmer, R Wu, E Harms, K Reiter, K von Figura, H H Freeze, H K Harms, T Marquardt

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Citations to this article in year 2013 (5)

Title and authors Publication Year
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, AK Huebner, A Grahn, J Reunert, G Nürnberg, H Thiele, J Altmüller, P Nürnberg, R Mumtaz, D Babovic-Vuksanovic, L Basel-Vanagaite, G Borck, J Brämswig, R Mühlenberg, P Sarda, A Sikiric, K Anyane-Yeboa, A Zeharia, A Ahmad, C Coubes, Y Wada, T Marquardt, D Vanderschaeghe, E Van Schaftingen, I Kurth, A Huebner, CA Hübner 		The American Journal of Human Genetics 2013
Understanding human glycosylation disorders: biochemistry leads the charge
HH Freeze 		The Journal of biological chemistry 2013
Reference Module in Chemistry, Molecular Sciences and Chemical Engineering
AN Hegde 		Reference Module in Chemistry, Molecular Sciences and Chemical Engineering 2013
rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency)
BS Miller, MM Duffy, OY Addo, K Sarafoglou 		Journal of Investigative Medicine High Impact Case Reports 2013
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
N Blau, M Duran, KM Gibson, CD Vici 		2013

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