Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). - Wikidata - wikimedia - TriplyDB

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

http://www.wikidata.org/entity/Q51952874

about

Glucose-6-phosphatase deficiency Natural history of hepatocellular adenoma formation in glycogen storage disease type I Liver tumors in children with metabolic disorders Investigation and management of the hepatic glycogen storage diseases Current Proceedings in the Molecular Dissection of Hepatocellular Adenomas: Review and Hands-on Guide for Diagnosis Stem cell-derived liver cells for drug testing and disease modeling Liver transplantation in glycogen storage disease type I Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia.Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy Development of hepatocellular adenomas and carcinomas in mice with liver-specific G6Pase-α deficiency Glycogen storage diseases: new perspectives.Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis.Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease Suppression of gluconeogenic gene expression by LSD1-mediated histone demethylation.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Oxidative stress mediates nephropathy in type Ia glycogen storage disease.Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study Key issues in the modes of action and effects of trichloroethylene metabolites for liver and kidney tumorigenesis Recombinant AAV-directed gene therapy for type I glycogen storage diseases.A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease.High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia.Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy.Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia.Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia.Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease Gene therapy for type I glycogen storage diseases In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases.Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure.Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

P2860

Q21202870-5448FD82-F265-4998-981B-6E58904DD00C Q24633522-C0A48E80-99EF-4438-A0AD-D35A2674D749 Q26770292-40286F4E-14BE-4C3B-82D2-1562F69EE3C4 Q26770303-F08FDA33-D738-4991-B88A-CC3A8BDB4BE5 Q26781373-36B41C10-CCA9-423F-906A-B15F5142BEA5 Q27012605-A05C0305-0E51-4F6E-A043-712829FD2816 Q27013712-0038CF96-2246-43D6-B055-9C27CFAB52C3 Q28296663-DCEEA3DF-6968-43AB-8FAF-89CB1584B049 Q33563689-DE7DBE9A-8CC5-4490-9E62-ECDAF2CFB16A Q33930092-EEBEFB38-C2FC-454A-80DE-53994F744A9E Q34081768-866A02E1-0CCC-4DDF-98AF-117E076B5696 Q34098766-BAADB861-33E2-4843-BE70-4014DDD7B5D5 Q34131806-334600F7-EB40-4694-844A-4555876CF74F Q34321129-78FD4D60-F310-471D-B01E-6961C332C779 Q34422289-76ED6AB4-3DC2-4A6A-B73E-453437149F87 Q34521347-BC4F56E3-B855-4C3F-988C-C57904541BEF Q34766859-606754A4-148B-423D-B495-DC679F312C06 Q34768395-B582163A-61B3-447A-80B9-5AA3EF44133D Q34807521-D0ACD3F8-4699-4324-9845-338DC7C08337 Q34923585-60386AE7-0DD3-4C5F-9C63-5E72B3AB89FD Q35039264-D0B946C9-DBF2-42D5-B0CD-91FA56AB0551 Q35078590-99A651D4-2A92-4BE0-AB5A-F50A0BACE2D5 Q35121019-BA2ABEB3-C4C9-47DF-9627-EEF413FA59B4 Q35183122-F101DA04-699E-46A2-BF2E-E731EA87AA89 Q35720799-1B28C969-11BD-47F8-A666-E96DF9E131DC Q35848722-1765ACB2-ED23-474F-98DC-FB0D8D91F211 Q36090555-9F96F851-836E-47B4-A9E4-4E049B396F16 Q36336550-233B22E2-1F13-4D31-8A9B-64E7F264473D Q36433240-AEFE2B30-ED8A-44C7-BFD5-388111952B74 Q36571603-3AC1DB98-88FD-4464-87B2-82900A563C2C Q36695473-5FC101AD-7179-42C6-85E0-7698EFF0DE75 Q36717914-8A52234F-A794-46D2-B454-D02639913280 Q36768634-59C86C73-2D2A-4A6C-9B7D-9CE4598B4F76 Q36777763-A3996D18-042D-4B2C-A530-4E309EA5360A Q36789527-33C51967-4F17-4C43-9589-59927BC25FAA Q36920632-3DE11EEC-DADF-4F67-98EC-2EE1E6E6B1FD Q36944402-02EF6684-CC91-4334-B896-70DD1DD92C43 Q37097027-820D535D-4A5F-49CF-BB76-2827294A13BA Q37150574-76C86B4D-4395-412D-A3A3-D19CBB9013B6 Q37180852-6F093BBA-2628-4AFC-966A-88E96723E315

P2860

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

http://www.wikidata.org/entity/Q51952874

description

2002 nî lūn-bûn

@nan

2002年の論文

@ja

2002年学术文章

@wuu

2002年学术文章

@zh

2002年学术文章

@zh-cn

2002年学术文章

@zh-hans

2002年学术文章

@zh-my

2002年学术文章

@zh-sg

2002年學術文章

@yue

2002年學術文章

@zh-hant

name

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@en

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@nl

type

label

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@en

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@nl

prefLabel

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@en

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@nl

P1433

Q51952874-D5DF0991-35AD-40B3-B683-17BB00DD4FA5

P1476

Q51952874-05380C40-FBAB-47AF-A115-7DF3675F9231

P2093

Q51952874-3507245A-52D6-43DB-B9A1-FC02D2BA81B5

Q51952874-47589042-EEFA-45AF-8C8D-6EC20DF98C12

Q51952874-7FADB6CB-3326-4F29-A013-474F3D9DCA51

Q51952874-900E9664-5D93-4538-9219-D114E9DF59CD

Q51952874-98AD975D-1042-4D45-AB0F-E464D73D1DAB

Q51952874-B90A2D2F-312D-4E47-B0FF-FBAA8D09D997

P2860

Q51952874-0DE5EF0E-DF0F-47F7-B188-8928E1926D68

Q51952874-0F3F2D33-084B-4955-B0C4-592DA9EA7365

Q51952874-1750FBF6-D39E-43EA-8ACA-F1784FF63BE5

Q51952874-1DBBCFA1-BD90-40AB-A18E-42A445F5FEC4

Q51952874-28F740B1-CF67-459D-8115-DEB94D702351

Q51952874-331448B7-B84C-4279-9287-7D3C15AD198C

Q51952874-362CDAAD-B554-40CC-B76D-25BACEE8C9E4

Q51952874-36CA5C60-A9BB-49BD-A9AB-7085C5DEF083

Q51952874-3A311D31-383F-46F7-A83B-D4E06082221F

Q51952874-56DB426D-5619-40CD-84C7-8C7228046AC6

P2888

Q51952874-CBCD27DC-DA00-4A34-A782-1501E4A9F607

P304

Q51952874-070678EA-7AC1-4B01-970E-7E17572B8D27

P31

Q51952874-6DF6B435-D1C2-4B1D-AB00-A30C0B04765D

P356

Q51952874-898DA71E-9F4D-4D84-B48F-0EF832AC2E6D

P478

Q51952874-A6949D3A-5432-4130-A033-B36066FA9DDE

P577

Q51952874-7B98B10F-7A1D-4BCD-807C-8EC1963CBE1F

P698

Q51952874-3DE070B7-52B8-426B-AFDB-50BBFEAA1966

P356

P1433

European Journal of Pediatrics

P1476

Glycogen storage disease type ...... rage Disease Type I (ESGSD I).

@en

P2093

G Peter A Smit

http://www.w3.org/2001/XMLSchema#string

Gepke Visser

http://www.w3.org/2001/XMLSchema#string

James V Leonard

http://www.w3.org/2001/XMLSchema#string

Jan Peter Rake

http://www.w3.org/2001/XMLSchema#string

Kurt Ullrich

http://www.w3.org/2001/XMLSchema#string

Philippe Labrune

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

Glycogen storage disease in adults

Decreased urinary citrate excretion in type 1a glycogen storage disease.

Type I glycogen storage disease: nine years of management with cornstarch.

Liver transplantation for glycogen storage disease types I, III, and IV

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

The "muscle-bone unit" in children and adolescents: a 2000 overview.

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

P2888

P304

S20-34

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/BF02679990

http://www.w3.org/2001/XMLSchema#string

P478

161 Suppl 1

http://www.w3.org/2001/XMLSchema#string

P577

2002-08-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

12373567

http://www.w3.org/2001/XMLSchema#string