(Q36927867)

17 August 2017

0 references

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype (English)

1 reference

17 August 2017

1 reference

Michaela Auer-Grumbach

1

object named as

Michaela Auer-Grumbach

0 references

author name string

Heiko Bode

2

1 reference

17 August 2017

Thomas R Pieber

3

1 reference

17 August 2017

Maria Schabhüttl

4

1 reference

17 August 2017

Dirk Fischer

5

1 reference

17 August 2017

Rainer Seidl

6

1 reference

17 August 2017

Elisabeth Graf

7

1 reference

17 August 2017

Thomas Wieland

8

1 reference

17 August 2017

Reinhard Schuh

9

1 reference

17 August 2017

Gerda Vacariu

10

1 reference

17 August 2017

Franz Grill

11

1 reference

17 August 2017

Vincent Timmerman

12

1 reference

17 August 2017

Tim M Strom

13

1 reference

17 August 2017

Thorsten Hornemann

14

1 reference

17 August 2017

27 February 2013

1 reference

European Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

56

1 reference

17 August 2017

5

1 reference

17 August 2017

266-269

1 reference

Novel biomarkers for pre-diabetes identified by metabolomics

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Mechanisms of disease in hereditary sensory and autonomic neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Deoxysphingoid bases as plasma markers in diabetes mellitus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682180

Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome?

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23454272

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.EJMG.2013.02.002

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23454272

1 reference