Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.
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| Title: | Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals. |
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| Authors: | Lao Q; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Schulman A; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Kulkarni S; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Kollender S; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Bick D; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Moon A; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA., Burkardt D; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC 20010, USA.; Department of Pediatrics and Orthopedics, George Washington University, Washington, DC 20052, USA., Merke DP; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.; Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA. |
| Source: | The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2026 Mar 17; Vol. 111 (4), pp. 1098-1113. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41051294 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Lao+Q%22">Lao Q</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Schulman+A%22">Schulman A</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Kulkarni+S%22">Kulkarni S</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Kollender+S%22">Kollender S</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Bick+D%22">Bick D</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Moon+A%22">Moon A</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Burkardt+D%22">Burkardt D</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC 20010, USA.; Department of Pediatrics and Orthopedics, George Washington University, Washington, DC 20052, USA.<br /><searchLink fieldCode="AU" term="%22Merke+DP%22">Merke DP</searchLink>; Department of Pediatrics, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA.; Eunice Kennedy Shriver  National Institute of Child Health and Human Development, Bethesda, MD 20892, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220375362%22">The Journal of clinical endocrinology and metabolism</searchLink> [J Clin Endocrinol Metab] 2026 Mar 17; Vol. 111 (4), pp. 1098-1113. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0375362 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1945-7197 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220021972X%22">0021972X </searchLink><i>NLM ISO Abbreviation: </i>J Clin Endocrinol Metab <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41051294 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1210/clinem/dgaf546 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1098 Titles: – TitleFull: Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lao Q – PersonEntity: Name: NameFull: Schulman A – PersonEntity: Name: NameFull: Kulkarni S – PersonEntity: Name: NameFull: Kollender S – PersonEntity: Name: NameFull: Bick D – PersonEntity: Name: NameFull: Moon A – PersonEntity: Name: NameFull: Burkardt D – PersonEntity: Name: NameFull: Merke DP IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 03 Text: 2026 Mar 17 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1945-7197 Numbering: – Type: volume Value: 111 – Type: issue Value: 4 Titles: – TitleFull: The Journal of clinical endocrinology and metabolism Type: main |
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