FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W417050003> ?p ?o ?g. }

• W417050003 endingPage "113" @default.
• W417050003 startingPage "109" @default.
• W417050003 abstract "Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature. Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. The diagnosis was confirmed by a novel homozygous mutation c.530G>C; p.(Arg177Pro) in exon 2 of the SPR gene. Because of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present. A general hypothalamic affection could be excluded. Since dopamine is known to regulate growth-hormone excretion, IGF-1, IGF-BP3, and peripheral thyroid hormone levels were monitored under l-dopa/carbidopa supplementation. Both growth-hormone-dependent factors and thyroid function normalized under treatment. This is the first report describing growth-hormone deficiency and central hypothyroidism in SR deficiency. It extends the phenotypic spectrum of the disease and identifies dopamine depletion as cause for the endocrinological disturbances." @default.
• W417050003 created "2016-06-24" @default.
• W417050003 creator A5027259737 @default.
• W417050003 creator A5034531104 @default.
• W417050003 creator A5055786974 @default.
• W417050003 creator A5072666778 @default.
• W417050003 creator A5080304129 @default.
• W417050003 creator A5090027115 @default.
• W417050003 date "2015-01-01" @default.
• W417050003 modified "2023-09-23" @default.
• W417050003 title "Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency" @default.
• W417050003 cites W1977889303 @default.
• W417050003 cites W1995648784 @default.
• W417050003 cites W2003156967 @default.
• W417050003 cites W2014505262 @default.
• W417050003 cites W2020816237 @default.
• W417050003 cites W2021111034 @default.
• W417050003 cites W2052627478 @default.
• W417050003 cites W2058552522 @default.
• W417050003 cites W2059682011 @default.
• W417050003 cites W2078572596 @default.
• W417050003 cites W2082201658 @default.
• W417050003 cites W2084852718 @default.
• W417050003 cites W2102895153 @default.
• W417050003 cites W2117195273 @default.
• W417050003 cites W2134092353 @default.
• W417050003 cites W2135129991 @default.
• W417050003 cites W2139231561 @default.
• W417050003 cites W2143041440 @default.
• W417050003 cites W2143481882 @default.
• W417050003 cites W2144274019 @default.
• W417050003 cites W2152793449 @default.
• W417050003 cites W2160486532 @default.
• W417050003 cites W2162783545 @default.
• W417050003 cites W31434223 @default.
• W417050003 cites W44824495 @default.
• W417050003 doi "https://doi.org/10.1007/8904_2015_450" @default.
• W417050003 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4582026" @default.
• W417050003 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26006722" @default.
• W417050003 hasPublicationYear "2015" @default.
• W417050003 type Work @default.
• W417050003 sameAs 417050003 @default.
• W417050003 citedByCount "15" @default.
• W417050003 countsByYear W4170500032016 @default.
• W417050003 countsByYear W4170500032017 @default.
• W417050003 countsByYear W4170500032018 @default.
• W417050003 countsByYear W4170500032020 @default.
• W417050003 countsByYear W4170500032021 @default.
• W417050003 countsByYear W4170500032022 @default.
• W417050003 crossrefType "book-chapter" @default.
• W417050003 hasAuthorship W417050003A5027259737 @default.
• W417050003 hasAuthorship W417050003A5034531104 @default.
• W417050003 hasAuthorship W417050003A5055786974 @default.
• W417050003 hasAuthorship W417050003A5072666778 @default.
• W417050003 hasAuthorship W417050003A5080304129 @default.
• W417050003 hasAuthorship W417050003A5090027115 @default.
• W417050003 hasBestOaLocation W4170500032 @default.
• W417050003 hasConcept C126322002 @default.
• W417050003 hasConcept C134018914 @default.
• W417050003 hasConcept C137183658 @default.
• W417050003 hasConcept C2776525014 @default.
• W417050003 hasConcept C2777871287 @default.
• W417050003 hasConcept C2779134260 @default.
• W417050003 hasConcept C2779952775 @default.
• W417050003 hasConcept C2984496839 @default.
• W417050003 hasConcept C513476851 @default.
• W417050003 hasConcept C71315377 @default.
• W417050003 hasConcept C71924100 @default.
• W417050003 hasConceptScore W417050003C126322002 @default.
• W417050003 hasConceptScore W417050003C134018914 @default.
• W417050003 hasConceptScore W417050003C137183658 @default.
• W417050003 hasConceptScore W417050003C2776525014 @default.
• W417050003 hasConceptScore W417050003C2777871287 @default.
• W417050003 hasConceptScore W417050003C2779134260 @default.
• W417050003 hasConceptScore W417050003C2779952775 @default.
• W417050003 hasConceptScore W417050003C2984496839 @default.
• W417050003 hasConceptScore W417050003C513476851 @default.
• W417050003 hasConceptScore W417050003C71315377 @default.
• W417050003 hasConceptScore W417050003C71924100 @default.
• W417050003 hasLocation W4170500031 @default.
• W417050003 hasLocation W4170500032 @default.
• W417050003 hasLocation W4170500033 @default.
• W417050003 hasLocation W4170500034 @default.
• W417050003 hasOpenAccess W417050003 @default.
• W417050003 hasPrimaryLocation W4170500031 @default.
• W417050003 hasRelatedWork W1963640353 @default.
• W417050003 hasRelatedWork W1979059193 @default.
• W417050003 hasRelatedWork W1983836497 @default.
• W417050003 hasRelatedWork W2034255477 @default.
• W417050003 hasRelatedWork W2062579683 @default.
• W417050003 hasRelatedWork W2064918881 @default.
• W417050003 hasRelatedWork W2080277814 @default.
• W417050003 hasRelatedWork W2105710561 @default.
• W417050003 hasRelatedWork W2163744984 @default.
• W417050003 hasRelatedWork W2171851218 @default.
• W417050003 isParatext "false" @default.
• W417050003 isRetracted "false" @default.
• W417050003 magId "417050003" @default.

• next