Trastornos Congénitos de Glicosilación/genética; Manosiltransferasas/genética; Mutación; Secuencia de Aminoácidos; Resultado Fatal; Glicosilación; Humanos; Lactante; Masculino; Datos de Secuencia Molecular; Alineación de Secuencia

ALG1; ALG1 pseudogenes; ALT; AST; AT-III; Alanine-aminotransferase; Antithrombin-III; Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)=chitobiosyldiphosphodolichol beta-mannosyltransferase; Aspartate aminotransferase; C-reactive protein (reacting with C-polysaccharide of Pneumococcus); CDG; CDT; CEPH; CHE; CK; CK-MB; CPAP; CRP; Carbohydrate deficient transferrin; Centre d'Etude du Polymorphisme Humain; Cholinesterase; Congenital disorder of glycosylation type Ik; Congenital disorders of glycosylation; Continuous positive airway pressure; Creatine kinase; Creatine kinase - muscle-brain, i.e. myocardial subtype of CK; DMEM; DMSO; DNA complementary to RNA; DPAGT1; Demethylsulfoxide; Deoxyribonucleoside triphosphate; Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1; Dulbecco's Modified Eagle's Medium; EDTA; Ethylenediaminetetraacetic acid; GDP; GLDH; GOT; GPT; Glc; GlcNAc; Glucose; Glutamate dehydrogenase; Glutamic oxaloacetic transaminase; Glutamic-pyruvic transaminase; Guanosine diphosphate; HMT1; HPLC; High performance liquid chromatography; Human mannosyltransferase 1; Hypoglycosylation; Hypoproteinemia; IEF; IGF1; IGFBP3; IMPP; IgG; Immunoglobulin G; Immunoprecipitation; Insulin-like growth factor 1; Insulin-like growth factor-binding protein 3; Isoelectric focusing; Kilodaltons; LLO; Lipid-linked oligosaccharides; MEM; Man; Mannose; Minimum essential medium; N-acetyl-d-glucosamine; PAGE; PBS; PCR; PP; Phosphate buffered saline; Polyacrylamide-gel electrophoresis; Polymerase chain reaction; Pyrophosphate; RER; Rough endoplasmic reticulum; SDS; Seizures; Sodium dodecyl sulfate; cDNA; dNTP; kDa