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Mannose Phosphate Isomerase (MPI)
Mannose Phosphate Isomerase (MPI)
PMI1; Mannose-6-Phosphate Isomerase; Phosphohexomutase; Phosphomannose isomerase
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. The authors used sequence information obtained from internal fragments of the protein to design degenerate oligonucleotides which were used to amplify a fragment of the PMI cDNA.The PMI gene encodes a predicted 423-amino acid polypeptide. Northern blot analysis detected a single 1.8-kb PMI mRNA in all tissues tested, with the highest levels in heart, brain, and skeletal muscle. Recombinant PMI expressed in E. coli had very similar activity to the native enzyme.
Organism species: Homo sapiens (Human)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
P115Hu01
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
MP115Hu21
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
PP115Hu01
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
KEP115Hu
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Mus musculus (Mouse)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Rattus norvegicus (Rat)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Canis familiaris; Canine (Dog)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Sus scrofa; Porcine (Pig)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Bos taurus; Bovine (Cattle)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Rhesus monkey (Simian)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Chicken (Gallus)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Ovis aries; Ovine (Sheep)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Oryctolagus cuniculus (Rabbit)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Cavia (Guinea pig )
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Equus caballus; Equine (Horse)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Capra hircus; Caprine (Goat)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Organism species: Pan-species (General)
PRODUCT TYPE
CATALOG NO.
PRODUCT NAME
APPLICATIONS
Proteins
NONE
Recombinant Mannose Phosphate Isomerase (MPI) Positive Control; Immunogen; SDS-PAGE; WB.
NONE
Native Mannose Phosphate Isomerase (MPI) Bioactivity
Antibodies
NONE
Monoclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IP.
NONE
Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) WB; IHC; ICC; IF.
NONE
Biotin Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) ELISA(Det);IC; IH; IH(P); WB
NONE
APC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) IHC, WB
NONE
HRP Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Simple Western; WB
NONE
PE Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry
NONE
FITC Linked-Polyclonal Antibody to Mannose Phosphate Isomerase (MPI) Flow Cytometry;ICC/IF
Assay Kits
NONE
ELISA Kit for Mannose Phosphate Isomerase (MPI) Enzyme-linked immunosorbent assay for Antigen Detection
NONE
CLIA kit for Mannose Phosphate Isomerase (MPI) CLIA assay for Antigen Detection
Reference
"Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase." Eur. J. Biochem. 219:415-423(1994) [PubMed ] [Europe PMC ] [Abstract ]
"Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)." Hum. Mutat. 16:247-252(2000) [PubMed ] [Europe PMC ] [Abstract ]
"Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed ] [Europe PMC ] [Abstract ]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." Genome Res. 14:2121-2127(2004) [PubMed ] [Europe PMC ] [Abstract ]
"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Anal. Chem. 81:4493-4501(2009) [PubMed ] [Europe PMC ] [Abstract ]
"Initial characterization of the human central proteome." BMC Syst. Biol. 5:17-17(2011) [PubMed ] [Europe PMC ] [Abstract ]
"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome." J. Proteomics 96:253-262(2014) [PubMed ] [Europe PMC ] [Abstract ]
"Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation." Am. J. Hum. Genet. 62:1535-1539(1998) [PubMed ] [Europe PMC ] [Abstract ]
"Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy." J. Clin. Invest. 101:1414-1420(1998) [PubMed ] [Europe PMC ] [Abstract ]
"A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases." J. Med. Genet. 38:14-19(2001) [PubMed ] [Europe PMC ] [Abstract ]
"Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation." Mol. Genet. Metab. 73:77-85(2001) [PubMed ] [Europe PMC ] [Abstract ]
"DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)." Eur. J. Hum. Genet. 10:643-648(2002) [PubMed ] [Europe PMC ] [Abstract ]
"Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib." J. Med. Genet. 39:849-851(2002) [PubMed ] [Europe PMC ] [Abstract ]