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Medicine / Intersexuality / Pediatrics / Steroids / Cytochrome P450 / Lipoid congenital adrenal hyperplasia / Steroidogenic acute regulatory protein / Glucocorticoid deficiency 1 / Congenital adrenal hyperplasia / Adrenal gland disorders / Biology / Health


Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR) Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosar
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Document Date: 2010-07-14 10:03:38

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File Size: 1,16 MB

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City

Bangkok / Bradford / Portsmouth / Salem / Francisco / Valencia / Madison / Zurich / Sunnyvale / Leydig / Naville / Ipswich / /

Company

Shalev SA / QIAGEN / The StAR / BD Biosciences / Molecular Devices Inc. / GE / ALPCO Diagnostics / Kulle AE / /

Country

Switzerland / Thailand / Japan / Pakistan / Canada / Korea / United Kingdom / India / Jordan / United States / /

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Facility

Chulalongkorn University / University of California San Francisco / University Children’s Hospital / UCL Institute of Child Health / University of California / University College London / Portsmouth Hospital / University of Pennsylvania / Chulalongkorn University Hospital / /

IndustryTerm

magnetic resonance imaging / cell culture media / Culture media / phosphate-carrier protein / imaging / cholesterol-binding site / splice acceptor site / abdominal imaging / carrier status / Online May / phosphate carrier protein / /

MedicalCondition

hypospadias / congenital adrenal hyperplasia / very severe disorder / phenotype of late onset adrenal insufficiency / complete adrenal insufficiency / progressive hypergonadotropic hypogonadism / disorder / Adrenal insufficiency / fairly severe disease / testicular carcinoma / progressive hyperpigmentation / neonatal jaundice / recently recognized disorder / fever / vomiting / congenital adrenal hyperplasia masquerading / deficiency / severe generalized hyperpigmentation / hypergonadotropic hypogonadism / Flu / adrenal and gonadal deficiency / familial glucocorticoid deficiency / P450scc deficiency / febrile seizures / skin infections / MS / adrenal insufficiency resembling nonautoimmune Addison disease / glandular hypospadias / disease / cryptorchidism / desmolase deficiency / milder disease / azoospermia / dehydration / /

MedicalTreatment

antibiotics / /

Organization

Walter L. Miller Department of Pediatrics / University Children’s Hospital / Chulalongkorn University / Division of Endocrinology / Diabetes / and Metabolism / University of California / San Francisco / National Health Service / Portsmouth Hospital / UCL Institute of Child Health / Division of Pediatric Endocrinology / the University of Pennsylvania / Philadelphia / University College London / Endocrine Society / Department of Pediatrics / Chulalongkorn University Hospital / ND ND / University of California San Francisco / San Francisco / Clinical and Molecular Genetics Unit / Division of Endocrinology / ND ND ND / /

Person

Carrie Burns / Joanna M. Walker / Lincoln Park / Clin Endocrinol / John C. Achermann / Raymond E. Soccio / Anna Biason-Lauber / Walter L. Miller / Lin Lin / /

Position

Professor of Pediatrics and Chief / Holterhus PM / reporter / /

Product

chorionic gonadotropin / ACTH / glycine / Prednisone / corticotropin / cosyntropin / testosterone / Hydrocortisone / /

ProvinceOrState

Connecticut / California / Pennsylvania / /

PublishedMedium

Clinical Science / /

RadioStation

Harris FM / /

Technology

thermodynamics / magnetic resonance imaging / genotype / molecular modeling / tomography / directed mutagenesis / ultrasound / MRI / DNA sequencing / /

URL

http /

SocialTag