(Q41590945)

4 October 2017

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group (English)

1 reference

4 October 2017

R Lachmann

7

0 references

author name string

S Sirrs

1

1 reference

4 October 2017

C Hollak

2

1 reference

4 October 2017

M Merkel

3

1 reference

4 October 2017

A Sechi

4

1 reference

4 October 2017

E Glamuzina

5

1 reference

4 October 2017

M C Janssen

6

1 reference

4 October 2017

J Langendonk

8

1 reference

4 October 2017

M Scarpelli

9

1 reference

4 October 2017

T Ben Omran

10

1 reference

4 October 2017

F Mochel

11

1 reference

4 October 2017

SFEIM-A Study Group

12

1 reference

4 October 2017

M C Tchan

13

1 reference

4 October 2017

9 October 2015

1 reference

Journal of Inherited Metabolic Disorders Reports

4 October 2017

1 reference

4 October 2017

27

1 reference

4 October 2017

85-91

1 reference

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

4 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Frequency of Fabry disease in male and female haemodialysis patients in Spain

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Fatty acid oxidation disorders: outcome and long-term prognosis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Prevalence of mitochondrial DNA disease in adults

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Structure-function relationships in alpha-galactosidase A.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

High incidence of later-onset fabry disease revealed by newborn screening

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580735

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26450566

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26450566

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2015_435

1 reference

4 October 2017

1 reference

4 October 2017

PubMed publication ID

26450566

1 reference