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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.126-126, Article 126

2020

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Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Molecular syndromology, 2024-03, Vol.15 (2), p.130-135

2024

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Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502

2021

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Global medical genetics, 2024-01, Vol.11 (1), p.100-112

2024

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Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.621-634

2022

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.157-160

2015

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Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2294-n/a

2024

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Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

BMC medical genetics, 2016-09, Vol.17 (1), p.65-65, Article 65

2016

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Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

JIMD Reports, Volume 24, 2015-01, Vol.24, p.109-113

2015

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Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials

JIMD Reports, Volume 22, 2015-01, Vol.22, p.47-55

2015

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Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.116-120

2006

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Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

Molecular genetics and metabolism, 2013-03, Vol.108 (3), p.195-197

2013

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Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

Neurogenetics, 2011-08, Vol.12 (3), p.183-191

2011

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LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway

JIMD Reports, Volume 29, 2016, Vol.29, p.1-9

2016

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The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations

Journal of medical genetics, 2006-07, Vol.43 (7), p.557-562

2006

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Two Greek siblings with sepiapterin reductase deficiency

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.403-409

2008

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Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Neurogenetics, 2004-09, Vol.5 (3), p.187-190

2004

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Structure, chromosomal localization, and expression of the Drosophila melanogaster gene encoding sepiapterin reductase

Gene, 2000-09, Vol.255 (2), p.357-361

2000

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The gene encoding sepiapterin reductase is located in central mouse chromosome 6

Mammalian genome, 1997-12, Vol.8 (12), p.942-942

1997

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Delivery of exogenous tetrahydrobiopterin (BH4) to cells of target organs: role of salvage pathway and uptake of its precursor in effective elevation of tissue BH4

Molecular genetics and metabolism, 2005-12, Vol.86 Suppl 1, p.S2-10

2005

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations

Two Greek siblings with sepiapterin reductase deficiency

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Structure, chromosomal localization, and expression of the Drosophila melanogaster gene encoding sepiapterin reductase

The gene encoding sepiapterin reductase is located in central mouse chromosome 6

Delivery of exogenous tetrahydrobiopterin (BH4) to cells of target organs: role of salvage pathway and uptake of its precursor in effective elevation of tissue BH4

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