(Q48221104)

9 February 2018

review article

1 reference

title

Neurological manifestations of organic acid disorders. (English)

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9 February 2018

author name string

G F Hoffmann

1

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9 February 2018

K M Gibson

2

1 reference

9 February 2018

F K Trefz

3

1 reference

9 February 2018

W L Nyhan

4

1 reference

9 February 2018

H J Bremer

5

1 reference

9 February 2018

D Rating

6

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9 February 2018

publication date

1 January 1994

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9 February 2018

European Journal of Pediatrics

published in

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9 February 2018

volume

153

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9 February 2018

issue

7 Suppl 1

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9 February 2018

page(s)

S94-100

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/bf02138786

exact match

0 references

cites work

SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02138786

Pre- and postnatal diagnosis of organoacidopathies

21 January 2018

1 reference

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Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

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Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future

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The first adult case with 4-hydroxybutyric aciduria.

1 reference

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Screening for organic acidurias and amino acidopathies in newborns and children

1 reference

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L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

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Value of neuroimaging in metabolic diseases affecting the CNS.

1 reference

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Physiology and pathophysiology of organic acids in cerebrospinal fluid

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Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

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Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency

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Neuroradiological and neurophysiological indices for neurometabolic disorders

1 reference

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Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

1 reference

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Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

12 December 2020

Gammahydroxybutyrate: an endogenous regulator of energy metabolism

1 reference

12 December 2020

Organic acidurias: a review. Part 1.

1 reference

12 December 2020

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

1 reference

12 December 2020

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1 reference

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Biotinidase deficiency: metabolites in CSF

1 reference

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CT and MR studies of methylmalonic acidemia

1 reference

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Peroxisomal disorders in neurology

1 reference

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Glutaric acidemia type II and flavin-dependent enzymes in morphogenesis

1 reference

12 December 2020

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

1 reference

12 December 2020

Macrocephaly: an important indication for organic acid analysis

1 reference

12 December 2020

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

1 reference

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Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

1 reference

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Adult-onset chorea and dementia with propionic acidemia

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Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02138786

1 reference

9 February 2018

PubMed ID

7957396

1 reference

9 February 2018