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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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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
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Citations to this article in year 2018 (13)

Title and authors Publication Year
MPI-CDG with transient hypoglycosylation and antithrombin deficiency
ME de la Morena-Barrio, E Wypasek, D Owczarek, A Miñano, V Vicente, J Corral, A Undas
Haematologica 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
B Dimitrov, N Himmelreich, AL Ederveen, C Lüchtenborg, JG Okun, M Breuer, AM Hutter, M Carl, L Guglielmi, A Hellwig, KC Thiemann, M Jost, V Peters, C Staufner, GF Hoffmann, A Hackenberg, N Paramasivam, S Wiemann, R Eils, M Schlesner, S Strahl, B Brügger, M Wuhrer, GC Korenke, C Thiel
Molecular Genetics and Metabolism 2018
CDG Therapies: From Bench to Bedside
S Brasil, C Pascoal, R Francisco, D Marques-da-Silva, G Andreotti, P Videira, E Morava, J Jaeken, V dos Reis Ferreira
International journal of molecular sciences 2018
Perspectives on Glycosylation and Its Congenital Disorders
BG Ng, HH Freeze
Trends in genetics : TIG 2018
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant
A Deeb, AA Amoodi
Clinical Case Reports 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
D Lenz, P McClean, A Kansu, PE Bonnen, G Ranucci, C Thiel, BK Straub, I Harting, B Alhaddad, B Dimitrov, U Kotzaeridou, D Wenning, R Iorio, RW Himes, Z Kuloğlu, EL Blakely, RW Taylor, T Meitinger, S Kölker, H Prokisch, GF Hoffmann, TB Haack, C Staufner
Genetics in Medicine 2018
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism
V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze
Cell Reports 2018
Developmental Neuropathology
H Adle-Biassette, BN Harding, J Golden
2018
Protein N-Glycosylation in Cardiovascular Diseases and Related Risk Factors
I Gudelj, G Lauc
Current Cardiovascular Risk Reports 2018
Guerbet glycolipids from mannose: liquid crystals properties
M Patrick, NI Zahid, M Kriechbaum, R Hashim
Liquid Crystals 2018
Congenital disorders of glycosylation
IJ Chang, M He, CT Lam
Annals of translational medicine 2018
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity and Improves Host Metabolism
V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze
SSRN Electronic Journal 2018
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect type ıb
P Haznedar, FT Eminoglu
TURK PEDIATR ARSIVI 2018

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