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PMM2 gene

Known as: CDG1a, PMI, phosphomannose isomerase 1 
National Institutes of Health

Related topics

Related topics

2 relations
Mannose-6-Phosphate IsomerasePhosphomannomutase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Fuzzy Logic-Based Operation of Battery Energy Storage Systems (BESSs) for Enhancing the Resiliency of Hybrid Microgrids
The resiliency of power systems can be enhanced during emergency situations by using microgrids, due to their capability to… 
2015
2015
On the origin and tunability of blue and green photoluminescence from chemically derived graphene: Hydrogenation and oxygenation studies
Highly Cited
2011
Highly Cited
2011
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
BACKGROUND Determination of the genetic defect in patients with a congenital disorder of glycosylation (CDG) is challenging… 
2007
2007
Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome
Abstract:  We present an infant with cDGS overlapping with CHARGE syndrome, who suffered from T‐cell deficiency treated with… 
Review
1999
Review
1999
Carbohydrate-Deficient Glycoprotein Syndromes: Inborn Errors of Protein Glycosylation
The carbohydrate-deficient glycoprotein (CDG) syndromes (CDGS) are a series of autosomal recessive enzyme deficiencies which… 
Review
1999
Review
1999
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
CDGS is a group of autosomal recessive, metabolic iseases, described for the first time by Jaeken et al. 1). The observation of… 
Highly Cited
1998
Highly Cited
1998
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate… 
Highly Cited
1998
Highly Cited
1998
Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.
Carbohydrate-deficient glycoprotein syndrome type I (CDGS I) is an autosomal recessive disease with multiple organ manifestations… 
1998
1998
The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)
Pericardial effusions were found in 6 of 10 children with carbohydrate-deficient glycoprotein syndrome type I (CDGS-I). In three… 
Review
1997
Review
1997
Carbohydrate-deficient glycoprotein syndrome.
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