(Q38263927)

1 September 2017

title

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics (English)

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1 September 2017

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glycogen storage disease

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Priya S Kishnani

1

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1 September 2017

Stephanie L Austin

2

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1 September 2017

Jose E Abdenur

3

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1 September 2017

Pamela Arn

4

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1 September 2017

Deeksha S Bali

5

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1 September 2017

Anne Boney

6

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1 September 2017

Wendy K Chung

7

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1 September 2017

Aditi I Dagli

8

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1 September 2017

David Dale

9

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1 September 2017

Dwight Koeberl

10

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1 September 2017

Michael J Somers

11

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1 September 2017

Stephanie Burns Wechsler

12

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1 September 2017

David A Weinstein

13

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1 September 2017

Joseph I Wolfsdorf

14

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1 September 2017

Michael S Watson

15

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1 September 2017

American College of Medical Genetics and Genomics

16

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1 September 2017

language of work or name

English

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publication date

1 November 2014

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1 September 2017

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1 September 2017

volume

16

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1 September 2017

issue

11

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1 September 2017

page(s)

e1

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https://scigraph.springernature.com/pub.10.1038/gim.2014.128

1 September 2017

exact match

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cites work

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

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https://api.crossref.org/works/10.1038%2FGIM.2014.128

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Molecular genetics of type 1 glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Liver transplantation for glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatocellular carcinoma in glycogen storage disease type Ia: a case series

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hypovitaminosis D in glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Bones benefit from better biochemical control in type 1 glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Bone mineral density in glycogen storage disease type Ia and Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Renal function and kidney size in glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Decreased urinary citrate excretion in type 1a glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease type I: indications for liver and/or kidney transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glucose-6-phosphatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Menorrhagia in patients with type I glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Pregnancies in glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Severe pulmonary arterial hypertension in type 1 glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Ischemic stroke in an adult with glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Ketosis in hepatic glycogenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Impaired platelet function in glucose-6-phosphatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Defect of platelet function associated with chronic hypoglycaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Diagnosis of inherited disorders of liver metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatomegaly in neonates and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Disorders of gluconeogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease, types I to X: criteria for morphologic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

A novel starch for the treatment of glycogen storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Nutrition therapy for hepatic glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Optimal rate of enteral glucose administration in children with glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Nutritional deficiencies in a patient with glycogen storage disease type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Dietary dilemmas in the management of glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Association of glycogen storage disease 1b and Crohn disease: results of a North American survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Clinical evaluation of a portable lactate meter in type I glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Psychosocial functioning in youth with glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Contraception and pregnancy in women affected by glycogen storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease type 1: impact of medium-chain triglycerides on metabolic control and growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogen storage disease type I: pathophysiology of liver adenomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Natural history of hepatocellular adenoma formation in glycogen storage disease type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatic adenomas treated with percutaneous ethanol injection in a patient with glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Indications for liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Model for end-stage liver disease (MELD) and allocation of donor livers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Chronic renal failure after transplantation of a nonrenal organ

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glycogenosis type I and diabetes mellitus: a common mechanism for renal dysfunction?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Transforming growth factor-beta in renal disease with glycogen storage disease I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Oxidative stress mediates nephropathy in type Ia glycogen storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

New equations to estimate GFR in children with CKD

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Using standardized serum creatinine values in the modification of diet in renal disease study equation for estimating glomerular filtration rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Mechanisms of diabetic hyperfiltration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Combination therapy with an angiotensin receptor blocker and an ACE inhibitor in proteinuric renal disease: a systematic review of the efficacy and safety data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Neutropenia in type Ib glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Colony-stimulating factors for neutropenia in glycogen storage disease Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Inflammatory bowel disease-like colitis in glycogen storage disease type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Efficacy of oral sildenafil in a beraprost-treated patient with severe pulmonary hypertension secondary to type I glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Echocardiographic indexes for the non-invasive evaluation of pulmonary hemodynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Drug-induced hypoglycaemia: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glucose dysregulation associated with antidepressant agents: an analysis of 17 published case reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Perioperative management of patients with glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Perioperative management of benign hepatic tumors in patients with glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Sex hormones and risk of liver tumor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

A prospective study of the forearm bone density of users of etonorgestrel- and levonorgestrel-releasing contraceptive implants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Pregnancy and breastfeeding in patients with Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Managing passively acquired autoimmune neonatal neutropenia: a case study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Term delivery in a woman with severe congenital neutropenia, treated with growth colony stimulating factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatocyte transplantation for glycogen storage disease type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Emerging therapies for glycogen storage disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Neonatal gene therapy of glycogen storage disease type Ia using a feline immunodeficiency virus-based vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Enhanced gene expression of systemically administered plasmid DNA in the liver with therapeutic ultrasound and microbubbles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Hepatocellular adenoma in type Ia glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Mutation analysis in glycogen storage disease type 1 non-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

HYPOGLYCÆMIA COMPLICATING FEEDING REGIMENS FOR GLYCOGEN-STORAGE DISEASE

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Chromosomal analysis of hepatic adenoma and focal nodular hyperplasia by comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Clinical Outcome of Hepatocyte Transplantation in Four Pediatric Patients with Inherited Metabolic Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Hepatic ultrasound findings in the glycogen storage diseases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Hepatic tumours in glycogen storage disease type 1 (von Gierke's disease)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Renal complications in glycogen storage disease type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Preemptive liver-kidney transplantation in von Gierke disease: a case report

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Pulmonary hypertension in glycogen storage disease type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Decreased ketogenesis in von Gierke's disease (type I glycogenosis)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Eruptive xanthoma and hyperlipemia in glycogen storage disease (von Gierke's disease)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Metabolic control and renal dysfunction in type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Glomerular and tubular function in glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Renal disease in type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Hypoglycemia in hospitalized patients. Causes and outcomes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Glycogen debranching enzyme deficiency: Long‐term study of serum enzyme activities and clinical features

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

The effect of disaccharides on the hyperlactacidaemia of glucose-6-phosphatase-deficient children

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Cornstarch therapy in type I glycogen-storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

The role of raw starches in the treatment of type I glycogenosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

The use of continuous glucose monitoring in the practical management of glycogen storage disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

The long-term outcome of patients with glycogen storage disease type Ia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1a

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Liver transplantation for type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

The survival benefit of liver transplantation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Hyperfiltration and renal disease in glycogen storage disease, type I

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Is glycogen storage disease 1a associated with atherosclerosis?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Type I glycogen storage disease with vasoconstrictive pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Pulmonary hypertension in type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Pulmonary vascular disease in a child with atrial septal defect of the secundum type and type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Management of hepatocellular adenoma during pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

A patient with cyclic neutropenia complicated by severe persistent neutropenia successfully delivered a healthy baby

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Transplacental passage of recombinant human granulocyte colony-stimulating factor in women with an imminent preterm delivery

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Effective treatment of drug-induced agranulocytosis using recombinant human granulocyte colony stimulating factor in pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Prophylactic granulocyte colony-stimulating factor treatment for acquired chronic severe neutropenia in pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.128

7 January 2021

Identifiers

DOI

10.1038/GIM.2014.128

0 references

1 reference