(Q41451901)

30 September 2017

title

Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria (English)

1 reference

30 September 2017

main subject

renal tubular acidosis

1 reference

J Oizumi

1

1 reference

30 September 2017

K N Shaw

2

1 reference

30 September 2017

T A Giudici

3

1 reference

30 September 2017

M Carter

4

1 reference

30 September 2017

G N Donnell

5

1 reference

30 September 2017

W G Ng

6

1 reference

30 September 2017

publication date

1 January 1983

1 reference

Journal of Inherited Metabolic Disease

30 September 2017

published in

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30 September 2017

volume

6

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30 September 2017

issue

3

1 reference

30 September 2017

page(s)

89-94

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01800731

30 September 2017

exact match

0 references

cites work

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800731

Renal function studies and kidney pyruvate carboxylase in subacute necrotizing encephalomyelopathy (Leigh's syndrome).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800731

Deficient Activity of Hepatic Pyruvate Dehydrogenase and Pyruvate Carboxylase in Reye's Syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800731

The enzymatic assay of pyruvic and lactic acids. A definitive procedure

21 January 2018

1 reference

12 December 2020

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

Gas chromatographic analysis of urinary tyrosine and phenylalanine metabolites in patients with gastrointestinal disorders

1 reference

12 December 2020

Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cells

1 reference

12 December 2020

Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.

1 reference

12 December 2020

Lactic acidosis with necrotizing encephalopathy in two sibs

1 reference

12 December 2020

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

1 reference

12 December 2020

Hyperalaninemia with pyruvicemia in a patient suggestive of Leigh's encephalomyelopathy.

1 reference

12 December 2020

Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups

1 reference

12 December 2020

Volatile fatty acids in normal human physiological fluids

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?

1 reference

12 December 2020

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

1 reference

12 December 2020

Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria

1 reference

12 December 2020

Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings

1 reference

12 December 2020

Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01800731

1 reference

Dimensions Publication ID

30 September 2017

1030995808

0 references

1 reference