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Glycogen metabolism in humansEosinophilia Associated with Disorders of Immune Deficiency or Immune DysregulationGalactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDGNeurological aspects of human glycosylation disordersALG8-CDG: novel patients and review of the literature.Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyInsights from exome sequencing for endocrine disordersCompromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiencyMutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and functionClinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Mannose metabolism: more than meets the eye.Diagnostic evaluation of rhabdomyolysis.Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.The evolutionary fate of alternatively spliced homologous exons after gene duplication.Rhabdomyolysis: a genetic perspective.SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.Liver glucose metabolism in humans.Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.Congenital disorders of glycosylation: new defects and still counting.Exercise in muscle glycogen storage diseases.Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.Malignant hyperthermia, a Scandinavian update.Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationClassical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Hyper-IgE Syndromes and the Lung.Phosphoglucomutase1 is necessary for sustained cell growth under repetitive glucose depletion.Asp263 missense variants perturb the active site of human phosphoglucomutase 1.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Congenital Hyperinsulinism in china: a review of Chinese literature over the past 15 yearsHyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily.Limitations of galactose therapy in phosphoglucomutase 1 deficiencyDiagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.News on Clinical Details and Treatment in PGM1-CDGPerhaps a wee bit of sugar would help.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@ast
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@en
type
label
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@ast
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@en
prefLabel
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@ast
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@en
P2093
P2860
P50
P356
P1476
Multiple phenotypes in phosphoglucomutase 1 deficiency.
@en
P2093
Anika Witten
Bobby G Ng
Daisy Rymen
Dieter Vanderschaeghe
Dirk J Lefeber
Esther Schrapers
Eva Morava
Francjan van Spronsen
Jaak Jaeken
Janine Reunert
P2860
P304
P356
10.1056/NEJMOA1206605
P407
P50
P577
2014-02-01T00:00:00Z