(Q41281361)

29 September 2017

title

Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency (English)

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

pyruvate carboxylase deficiency disease

23 April 2023

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

author name string

J. P. Van Biervliet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

L. Bruinvis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

C. van der Heiden

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

D. Ketting

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

S. K. Wadman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 2022

J. L. Willemse

0 references

L. A. Monnens

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A407120

29 June 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=407120

29 June 2022

publication date

1 June 1977

1 reference

full work available at URL

29 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1469-8749.1977.tb08376.x

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.1977.tb08376.x/fullpdf

23 April 2023

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Developmental Medicine and Child Neurology

23 April 2023

published in

1 reference

29 September 2017

volume

19

1 reference

29 September 2017

issue

3

1 reference

29 September 2017

page(s)

392-401

1 reference

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

29 September 2017

cites work

3

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Intermittent ataxia with pyruvate-decarboxylase deficiency.

23 April 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

23 April 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Role of thiamine triphosphate in subacute necrotizing encephalomyelopathy

23 April 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Thiamine Triphosphate Deficiency in Subacute Necrotizing Encephalomyelopathy

23 April 2023

8

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

A disease in infants resembling chronic Wernicke's encephalopathy

23 April 2023

10

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

A screening method for liver glycogen diseases

23 April 2023

11

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

STUDIES ON THE UTILIZATION OF HEXOSES IN LIVER GLYCOGEN DISEASE

23 April 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant

23 April 2023

14

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Biochemical studies and therapy in subacute necrotizing encephalomyelopathy (Leigh's syndrome)

23 April 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

23 April 2023

17

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Glucose-Lactate Inter-Relations in Man

23 April 2023

18

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

The formation of 2-hydroxybutyric acid in experimental animals

23 April 2023

19

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Clinical conditions associated with urinary excretion of 2-hydroxybutyric acid

23 April 2023

20

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Subacute necrotizing encephalomyelopathy in an infant

23 April 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Efficacy of recommended therapeutic regimens in Leigh's disease.

23 April 2023

23

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

23 April 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Studies in type I glycogenosis of the liver. The genesis and disposition of lactate

23 April 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Purification and properties of human liver pyruvate carboxylase

23 April 2023

27

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Pathogenesis of Leigh's encephalomyelopathy.

23 April 2023

28

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Chronic lactic acidosis in association with myopathy

23 April 2023

29

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

N-EPSILON-(CARBOXYMETHYL)LYSINE, A CONSTITUENT OF HUMAN URINE

23 April 2023

32

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Lactic acidosis with necrotizing encephalopathy in two sibs

23 April 2023

33

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

Skeletal muscle disease with abnormal mitochondria

23 April 2023

34

1 reference

https://api.crossref.org/works/10.1111/J.1469-8749.1977.TB08376.X

23 April 2023

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=407120

29 June 2022

1 reference