(Q83957338)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Screening for lysosomal storage disorders--a clinical perspective (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

author name string

Janice M Fletcher

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

publication date

1 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

29 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

405-408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763909%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-006-0246-7

29 January 2020

exact match

0 references

cites work

Minimizing risks: the ethics of predictive diabetes mellitus screening research in newborns

1 reference

12 December 2020

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders

1 reference

12 December 2020

Prediction of neuropathology in mucopolysaccharidosis I patients.

1 reference

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A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal

1 reference

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Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker

1 reference

12 December 2020

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

1 reference

12 December 2020

Newborn screening for inborn errors of metabolism: a systematic review.

1 reference

12 December 2020

Pilot neonatal screening program for lysosomal storage disorders, using lamp-1

1 reference

12 December 2020

Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Prevalence of lysosomal storage disorders

1 reference

12 December 2020

Screening for Fragile X Syndrome: Parent attitudes and perspectives

1 reference

12 December 2020

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

1 reference

12 December 2020

Newborn screening for Duchenne muscular dystrophy: a psychosocial study

1 reference

12 December 2020

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

1 reference

12 December 2020

Postgenomic medicine. Presymptomatic testing for prediction and prevention

1 reference

12 December 2020