|1.||Seta, Nathalie: 5 articles (01/2014 - 06/2002)|
|2.||Freeze, Hudson H: 4 articles (11/2012 - 03/2002)|
|3.||Thiel, Christian: 3 articles (11/2015 - 08/2006)|
|4.||Körner, Christian: 3 articles (11/2015 - 08/2006)|
|5.||Pérez-Cerdá, Celia: 3 articles (09/2015 - 08/2011)|
|6.||Pérez, Belén: 3 articles (09/2015 - 08/2011)|
|7.||Dupré, Thierry: 3 articles (05/2005 - 06/2002)|
|8.||Ugarte, Magdalena: 2 articles (09/2015 - 08/2011)|
|9.||Desviat, Lourdes R: 2 articles (09/2015 - 08/2011)|
|10.||Gámez, Alejandra: 2 articles (09/2015 - 08/2011)|
11/01/2008 - "Our study shows that vaccination of susceptible BALB/c mice with live Leishmania major phosphomannomutase-deficient parasites, which are avirulent and non-persistent in vivo, leads to protection against infection. "
07/01/2009 - "Our previous work showed that immunization with non-persistent phosphomannomutase-deficient (DeltaPMM) Leishmania major parasites confers significant protection in susceptible BALB/c mice due to increased T-cell numbers and suppression of IL-10 and IL-13 early during infection. "
|2.||Congenital Disorders of Glycosylation
05/01/2013 - "Phosphomannomutase 2 (PMM2) deficiency represents the most frequent type of congenital disorders of glycosylation. "
01/01/2009 - "The most common form is phosphomannomutase deficiency or congenital disorders of glycosylation type Ia with an autosomal recessive inheritance and incidence estimated at 1/20000-1/50000 live born. "
08/01/2005 - "The most common type of the congenital disorders of glycosylation, CDG-Ia, is caused by mutations in the human PMM2 gene, reducing phosphomannomutase (PMM) activity. "
03/15/2002 - "A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia."
08/01/2001 - "Congenital disorders of glycosylation (CDG) type I are mostly due to a deficient phosphomannomutase activity, called CDG Ia. "
04/01/2011 - "In this study, FSH isoform patterns of five classic galactosemia patients with POI were compared to the pattern obtained in two patients with a primary glycosylation disorder (phosphomannomutase-2-deficient congenital disorders of glycosylation, PMM2-CDG) and POI, and in five postmenopausal women as controls. "
|4.||Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
09/01/2015 - "Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity. "
01/01/2015 - "Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. "
01/01/2014 - "PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. "
08/01/2011 - "Deficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. "
12/01/2009 - "Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency."
01/01/2015 - "Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment."
10/01/2007 - "Therefore, in patients presenting with apparently recessive inherited ataxia caused by cerebellar hypoplasia and an unknown genetic aetiology after proper diagnostic work-up, we recommend the measurement of phosphomannomutase activity when transferrin isofocusing is normal or inconclusive."
|1.||Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)
|4.||prostaglandin R2 D-isomerase (prostaglandin D2 synthase)
|7.||Transferrin (beta 2 Transferrin)
|8.||Proteins (Proteins, Gene)