(Q33792200)

29 July 2017

1 reference

title

Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies (English)

1 reference

29 July 2017

K Hyland

1

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29 July 2017

L A Arnold

series ordinal

2

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29 July 2017

publication date

1 November 1999

1 reference

Journal of Child Neurology

29 July 2017

published in

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29 July 2017

volume

14 Suppl 1

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29 July 2017

page(s)

S9-15

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Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism

29 July 2017

cites work

1 reference

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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

21 January 2018

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Abnormalities of biogenic amine metabolism

21 January 2018

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Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

21 January 2018

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Folinic acid-responsive neonatal seizures

21 January 2018

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Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy

21 January 2018

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International database of tetrahydrobiopterin deficiencies

21 January 2018

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

21 January 2018

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Non-ketotic hyperglycinaemia: clinical and biochemical aspects

21 January 2018

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Concentration gradient of CSF monoamine metabolites in children and adolescents.

21 January 2018

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Direct analysis of tetrahydrobiopterin in cerebrospinal fluid by high-performance liquid chromatography with redox electrochemistry: prevention of autoxidation during storage and analysis

21 January 2018

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Artifactual increases in the concentration of free GABA in samples of human cerebrospinal fluid are due to degradation of homocarnosine.

21 January 2018

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Neurochemistry and defects of biogenic amine neurotransmitter metabolism

21 January 2018

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Ventricular cerebrospinal fluid monoamine transmitter and metabolite concentrations reflect human brain neurochemistry in autopsy cases

21 January 2018

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Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation

21 January 2018

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Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

21 January 2018

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Dihydropteridine reductase deficiency localized to the central nervous system

21 January 2018

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Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

21 January 2018

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

21 January 2018

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Cerebrospinal fluid investigations for neurometabolic disorders

21 January 2018

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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

21 January 2018

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Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

21 January 2018

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Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

21 January 2018

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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

21 January 2018

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Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

21 January 2018

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Bottlenecks and beyond: mitochondrial DNA segregation in health and disease

21 January 2018

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Immune response-associated production of neopterin. Release from macrophages primarily under control of interferon-gamma

21 January 2018

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Inherited disorders of GABA metabolism

21 January 2018

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Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

21 January 2018

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10.1177/0883073899014001031

21 January 2018

Identifiers

DOI

0 references

1 reference