(Q26771677)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

2 October 2020

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

main subject

evidence-based medicine

1 reference

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

2 October 2020

corrigendum / erratum

1 reference

10.1186/S13023-016-0431-1

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1186/S13023-016-0431-1

author

Dèlia Yubero

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Franco Bartoloni

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Fedele Bonifazi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Linda Cassis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Marta Molero-Luis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Maria Julieta González

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Carme Fons

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Cristina Jou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Cristina Sierra

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Esperanza Castejon Ponce

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Federico Ramos

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Judith Armstrong

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

M Mar O'Callaghan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Mercedes Casado

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Raquel Montero

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Rafael Artuch

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ivo Barić

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Cinzia Maria Bellettato

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Adriana Ceci

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ljerka Cvitanović-Šojat

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Christine I Dali

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Francesca D'Avanzo

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ksenija Fumic

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Viviana Giannuzzi

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Christina Lampe

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Maurizio Scarpa

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ángels Garcia-Cazorla

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Elisenda Cortès-Saladelafont

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Aida Ormazábal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Silvia Meavilla-Olivas

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

language of work or name

English

0 references

publication date

30 December 2015

3 references

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2 October 2020

Orphanet Journal of Rare Diseases

3 references

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2 October 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

1

0 references

page(s)

164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

3 March 2020

copyright license

2 references

25 April 2019

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

2 October 2020

0 references

1 reference

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Clinical guidelines for late-onset Pompe disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Glycogen storage disease type III diagnosis and management guidelines

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

A practice guideline on Wilson disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: the AGREE project

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Evaluating Guidelines: A Review of Key Quality Criteria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Current status of newborn screening worldwide: 2015.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Guidelines for the use of survivorship care plans: a systematic quality appraisal using the AGREE II instrument

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Adolescent presentations of inborn errors of metabolism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Do guidelines offer implementation advice to target users? A systematic review of guideline applicability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Management of Gaucher disease: enzyme replacement therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

An overview of inborn errors of complex lipid biosynthesis and remodelling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Guidelines for the diagnosis and treatment of cobalamin and folate disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Guidance for updating clinical practice guidelines: a systematic review of methodological handbooks

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Appraisal tools for clinical practice guidelines: a systematic review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Revised recommendations for the management of Gaucher disease in children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Developing clinical practice guidelines: types of evidence and outcomes; values and economics, synthesis, grading, and presentation and deriving recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

EASL Clinical Practice Guidelines: Wilson's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Consensus treatment recommendations for late-onset Pompe disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Patient and public involvement in clinical practice guidelines: a knowledge synthesis of existing programs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Diagnosis and management of glutaric aciduria type I--revised recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Development of the AGREE II, part 1: performance, usefulness and areas for improvement

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Mucopolysaccharidosis I: management and treatment guidelines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Management guidelines for mucopolysaccharidosis VI.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Pompe disease diagnosis and management guideline.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Individualization of long-term enzyme replacement therapy for Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Management of neuronopathic Gaucher disease: a European consensus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

When should clinical guidelines be updated?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

How to develop cost-conscious guidelines.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

The frequency of lysosomal storage diseases in The Netherlands.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

Phenylketonuria Scientific Review Conference: state of the science and future research needs

28 September 2017

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0376-9

Best practice guidelines on clinical management of acute attacks of porphyria and their complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0376-9

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0376-9

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0376-9

Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4696316

28 November 2018

1 reference

12 December 2020

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

1 reference

12 December 2020

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

1 reference

12 December 2020

From outdated to updated, keeping clinical guidelines valid

1 reference

12 December 2020

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

1 reference

12 December 2020

Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

1 reference

12 December 2020

Clinical Practice Guidelines – Directions for a New Program

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0376-9

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/S13023-015-0376-9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 March 2020

1052460987

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

26714856

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26714856%20AND%20SRC:MED&resulttype=core&format=json