(Q46694134)

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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

high-performance liquid chromatography

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inferred from title

Efraim H Rosenberg

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

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Ofir T Betsalel

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Jiddeke M van de Kamp

2

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4 January 2020

Cristina Martínez-Muñoz

3

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4 January 2020

Arjan P M de Brouwer

5

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4 January 2020

Petra J W Pouwels

6

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4 January 2020

Marjo S van der Knaap

7

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4 January 2020

Grazia M S Mancini

8

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4 January 2020

Cornelis Jakobs

9

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4 January 2020

Ben C J Hamel

10

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4 January 2020

Gajja S Salomons

11

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4 January 2020

publication date

19 March 2008

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4 January 2020

1 reference

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4 January 2020

9

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4 January 2020

3

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4 January 2020

183-190

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4 January 2020

https://scigraph.springernature.com/pub.10.1007/s10048-008-0125-5

0 references

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Leukoencephalopathy associated with a disturbance in the metabolism of polyols

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

Purification and characterization of the creatine transporter expressed at high levels in HEK293 cells

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0125-5

21 January 2018

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18350323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18350323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

1 reference

https://pubmed.ncbi.nlm.nih.gov/18350323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier

1 reference

https://pubmed.ncbi.nlm.nih.gov/18350323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-008-0125-5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18350323%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

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