(Q79219450)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Diagnosis and treatment of neurotransmitter disorders (English)

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20 December 2019

1

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20 December 2019

author name string

Thomas R Hartka

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Jacob Taylor

series ordinal

3

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20 December 2019

publication date

1 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

Current treatment options in neurology

20 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

8

1 reference

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20 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

441-450

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s11940-006-0033-7

20 December 2019

exact match

0 references

cites work

Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

1 reference

12 December 2020

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

1 reference

12 December 2020

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

1 reference

12 December 2020

Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine

1 reference

12 December 2020

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

1 reference

12 December 2020

Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia.

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Dopa-responsive dystonia -- the story so far.

1 reference

12 December 2020

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

1 reference

12 December 2020

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

1 reference

12 December 2020

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

1 reference

12 December 2020

Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy

1 reference

12 December 2020

Diagnosis and treatment of neurotransmitter-related disorders

1 reference

12 December 2020

Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures

1 reference

12 December 2020

The genetics of primary dystonias and related disorders

1 reference

12 December 2020

Inherited disorders of neurotransmitters in children and adults

1 reference

12 December 2020

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation

1 reference

12 December 2020

Murine succinate semialdehyde dehydrogenase deficiency

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12 December 2020

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

1 reference

12 December 2020

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency

1 reference

12 December 2020

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

Pyridoxine or pyridoxal phosphate for intractable seizures?

1 reference

12 December 2020

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

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12 December 2020

Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.

1 reference

12 December 2020

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

1 reference

12 December 2020

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

1 reference

12 December 2020

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

1 reference

12 December 2020

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

12 December 2020

Pyridoxine-dependent seizures: a clinical and biochemical conundrum

1 reference

12 December 2020

The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

1 reference

12 December 2020

The long-term response to levodopa in dopa-responsive dystonia

1 reference

12 December 2020

Monitoring of 4‐hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency

1 reference

12 December 2020

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

1 reference

12 December 2020

Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

1 reference

12 December 2020

10.1007/S11940-006-0033-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17032564%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference