(Q47294149)

13 January 2018

title

Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1588014

cross-cultural comparison

12 October 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1588014

12 October 2022

author name string

P. T. Ozand

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1588014

12 October 2022

E. B. Devol

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1588014

12 October 2022

G. G. Gascon

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1588014

12 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1588014

12 October 2022

publication date

1 April 1992

1 reference

13 January 2018

Journal of Child Neurology

published in

1 reference

13 January 2018

volume

7 Suppl

1 reference

13 January 2018

page(s)

S4-11

1 reference

13 January 2018

Infantile CNS spongy degeneration--14 cases: clinical update.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Organic acidurias: a review. Part 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Organic acidurias: a review. Part 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

GM1 gangliosidosis type 2 in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Saudi variant of multiple sulfatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Increased intracranial pressure in Alexander disease: a rare presentation of white-matter disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Aspartoacylase deficiency and Canavan disease in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Increased radiosensitivity of cell lines derived from a Down's syndrome patient with ocular telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

Biochemical heterogeneity of infantile central nervous system spongy degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738920070010211

10.1177/08830738920070010211

21 January 2018

Identifiers

DOI

1 reference

13 January 2018

1 reference

13 January 2018