Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition (Q102059103)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

title

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

8

Tawfeg Ben-Omran

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Jennifer McEvoy-Venneri

10

object named as

Jennifer McEvoy-Venneri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

11

Valentina Stanley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

author name string

Shereen G Ghosh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Sangmoon Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Rudy Fabunan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Guoliang Chai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Maha S Zaki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Ghada Abdel-Salam

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Tipu Sultan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Javeria Raza Alvi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Aakash Patel

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Danica Ross

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Jeffrey Ding

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Mohit Jain

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Daqiang Pan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Philipp Lübbert

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Bernd Kammerer

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Nils Wiedemann

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Nanda M Verhoeven-Duif

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Judith J Jans

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

David Murphy

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Mehran Beiraghi Toosi

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Farah Ashrafzadeh

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Shima Imannezhad

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Ehsan Ghayoor Karimiani

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Khalid Ibrahim

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Elizabeth R Waters

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

Reza Maroofian

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

publication date

14 November 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

18 November 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Exome Sequencing and the Management of Neurometabolic Disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Neurometabolic disorders and congenital malformations of the central nervous system.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Neurometabolic disorders: Five new things.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Reaction mechanisms of mononuclear non-heme iron oxygenases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

New clinical phenotype of branched-chain acyl-CoA oxidation defect

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

The molecular basis of alkaptonuria

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

A conserved family of prolyl-4-hydroxylases that modify HIF

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

4-Hydroxyphenylpyruvate dioxygenase

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Tyrosinemia type III in an asymptomatic girl

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

PROMALS3D: multiple protein sequence alignment enhanced with evolutionary and three-dimensional structural information

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Interactive tree of life (iTOL) v3: an online tool for the display and annotation of phylogenetic and other trees

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

PAML 4: phylogenetic analysis by maximum likelihood

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

TranslatorX: multiple alignment of nucleotide sequences guided by amino acid translations

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Online synonymous codon usage analyses with the ade4 and seqinR packages.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

The mutational constraint spectrum quantified from variation in 141,456 humans

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

A molecular atlas of cell types and zonation in the brain vasculature.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

A subcellular map of the human proteome.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Proteomics. Tissue-based map of the human proteome

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-020-01010-Y

7 January 2021

10.1038/S41436-020-01010-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33188300%20AND%20SRC:MED&resulttype=core&format=json

18 November 2020

1 reference