(Q72444160)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Preliminary results (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses (English)

1 reference

6 August 2023

1 reference

1 reference

6 August 2023

author name string

H. Christomanou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6108913

6 August 2023

J. Martinius

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6108913

6 August 2023

S. Jaffé

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6108913

6 August 2023

K. Betke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6108913

6 August 2023

C. Förster

5

1 reference

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6 August 2023

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=6108913

6 August 2023

publication date

1 January 1980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

26 October 2019

http://link.springer.com/content/pdf/10.1007/BF00329134.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00329134/fulltext.html

6 August 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00329134

6 August 2023

1 reference

6 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

103-110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

A simple and novel method for tritium labeling of gangliosides and other sphingolipids

26 October 2019

cites work

1 reference

12 December 2020

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

1 reference

12 December 2020

Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy

1 reference

12 December 2020

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

1 reference

12 December 2020

The myoclonic variants of familial amaurotic idiocy

1 reference

12 December 2020

Acid lipase in cultured fibroblasts: cholesterol ester storage disease

1 reference

12 December 2020

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family

1 reference

12 December 2020

Metachromatic leukodystrophy and arylsulphatase A: relations and discrepancies

1 reference

12 December 2020

Variation of arylsulphatase A: comparative studies of arylsulphatase A with synthetic and natural substrates in three families with metachromatic leucodystrophy

1 reference

12 December 2020

Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?

1 reference

12 December 2020

Biochemistry and Genetics of gangliosidoses

1 reference

12 December 2020

Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings

1 reference

12 December 2020

Intracellular concentrations of phenylalanine, tyrosine and ?-aminobutyric acid in 13 homozybotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals

1 reference

12 December 2020

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

1 reference

12 December 2020

Isoelectric Focusing Pattern of Acid Hydrolases in Cultured Fibroblasts, Leucocytes and Cell-Free Amniotic Fluid

1 reference

12 December 2020

The New England Journal of Medicine

6

293

302

G. Dubois

1975

1 reference

6 August 2023

Identifiers

DOI

10.1007/BF00329134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6108913%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference