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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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Research Article Article has an altmetric score of 12

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

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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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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1982 1972 1959 1953 Total
Citations: 2 4 6 5 13 14 6 13 7 5 12 14 5 16 11 13 12 15 11 20 13 11 13 21 19 19 22 5 1 1 1 1 331
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Citations to this article in year 2004 (11)

Title and authors Publication Year
A six-month-old infant with liver steatosis
MO Stormon, E Cutz, K Furuya, M Bedford, L Yerkes, DR Tolan, A Feigenbaum
The Journal of Pediatrics 2004
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I
C Kranz, J Denecke, L Lehle, K Sohlbach, S Jeske, F Meinhardt, R Rossi, S Gudowius, T Marquardt
The American Journal of Human Genetics 2004
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
C Kranz, J Denecke, L Lehle, K Sohlbach, S Jeske, F Meinhardt, R Rossi, S Gudowius, T Marquardt
The American Journal of Human Genetics 2004
Defectos congénitos de la glucosilación: últimos avances y experiencia española
MA Vilaseca, R Artuch, P Briones
Medicina Clínica 2004
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
M Schwarz, C Thiel, J Lübbehusen, B Dorland, T Koning, K Figura, L Lehle, C Körner
The American Journal of Human Genetics 2004
Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic:
G Damen, H Klerk, J Huijmans, J Hollander, M Sinaasappel
Journal of Pediatric Gastroenterology and Nutrition 2004
Excess Mannose Limits the Growth of Phosphomannose Isomerase PMI40 Deletion Strain of Saccharomyces cerevisiae
JP Pitkänen, A Törmä, S Alff, L Huopaniemi, P Mattila, R Renkonen
The Journal of biological chemistry 2004
Our Experience with Diagnostics of Congenital Disorders of Glycosylation
Z Albahri, E Marklová, H Vaníček, L Minxová, P Dědek, S Skálová, M Talábová, J Vávrová, E Rencová
Acta Medica (Hradec Kralove, Czech Republic) 2004
Pathology of Pediatric Gastrointestinal and Liver Disease
P Russo, ED Ruchelli, DA Piccoli
2004
Vasomodulating Potential of Mediterranean Wild Plant Extracts
S Grande, P Bogani, A de Saizieu, G Schueler, C Galli, F Visioli
Journal of Agricultural and Food Chemistry 2004
Congenital disorders of glycosylation (CDG): Update and new developments
J Jaeken
Journal of Inherited Metabolic Disease 2004

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