(Q35077744)

6 August 2017

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title

Diagnosis and treatment of neurotransmitter-related disorders (English)

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6 August 2017

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1

Kathryn J Swoboda

2 references

ORCID Public Data File 2021

6 August 2017

Keith Hyland

2

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6 August 2017

publication date

1 November 2002

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6 August 2017

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6 August 2017

volume

20

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6 August 2017

issue

4

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6 August 2017

page(s)

1143-61, viii

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Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

6 August 2017

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7 January 2021

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

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7 January 2021

Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy

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7 January 2021

Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients

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7 January 2021

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

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7 January 2021

New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins

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7 January 2021

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

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7 January 2021

Lessons from a remarkable family with dopa-responsive dystonia

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7 January 2021

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

1 reference

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7 January 2021

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings

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7 January 2021

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

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7 January 2021

Treatable neurotransmitter deficiency in mild phenylketonuria

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7 January 2021

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

1 reference

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7 January 2021

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

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7 January 2021

A human tyrosine hydroxylase isoform associated with progressive supranuclear palsy shows altered enzymatic activity

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7 January 2021

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation

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7 January 2021

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

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7 January 2021

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

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7 January 2021

L-dopa and selegiline for tyrosine hydroxylase deficiency

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7 January 2021

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

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7 January 2021

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa

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7 January 2021

Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Excess of High Activity Monoamine Oxidase A Gene Promoter Alleles in Female Patients with Panic Disorder

1 reference

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7 January 2021

Association Between Bipolar Disorder and Monoamine Oxidase A Gene Polymorphisms: Results of a Multicenter Study

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7 January 2021

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes

1 reference

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7 January 2021

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

1 reference

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7 January 2021

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

1 reference

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7 January 2021

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

1 reference

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7 January 2021

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1 reference

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7 January 2021

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease

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7 January 2021

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis

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7 January 2021

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

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7 January 2021

Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia

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7 January 2021

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.

1 reference

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7 January 2021

A new leukoencephalopathy with vanishing white matter

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7 January 2021

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

1 reference

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7 January 2021

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

1 reference

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7 January 2021

Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900018-X

7 January 2021

10.1016/S0733-8619(02)00018-X

Identifiers

DOI

1 reference

6 August 2017

1 reference