(Q28240100)

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

The genetics of primary dystonias and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

A murine model for human sepiapterin-reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Noradrenaline is essential for mouse fetal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Dopamine beta-hydroxylase deficiency impairs cellular immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Increased Norepinephrine Levels and Decreased Dopamine-β-Hydroxylase Activity in Primary Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Genetically determined low maternal serum dopamine beta-hydroxylase levels and the etiology of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Magnetic resonance spectroscopy of neurotransmitters in human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Inherited disorders of neurotransmitters in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Human Succinic Semialdehyde Dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Clinical aspects of the disorders of GABA metabolism in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Murine succinate semialdehyde dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

GABAB receptor antagonism abolishes the learning impairments in rats with chronic atypical absence seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Peculiarities of carnosine metabolism in a patient with pronounced homocarnosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Pyridoxine-dependent seizures: a clinical and biochemical conundrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807302619