Výsledky vyhledávání

Differences in screening and confirmatory thyroid profiles in congenital hypothyroid subtypes: implications for missed cases

Autor: D R, MacMillan, C C, Mabry

Publikováno v: Journal of perinatology : official journal of the California Perinatal Association. 15(2)

Subtypes of primary congenital hypothyroidism (CHT) showed different degrees of impairment of thyroid function at screening and confirmation. Patients with athyrosis showed the greatest impairment with mean value for screening 1-thyroxine (ScrT4) of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b1b9958e58962a8ebfd0f9c87b641153
https://pubmed.ncbi.nlm.nih.gov/7595770

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Phenylketonuria: contemporary screening and diagnosis

Autor: C C, Mabry

Publikováno v: Annals of clinical and laboratory science. 20(6)

Screening newborns for phenylketonuria (PKU) is a mandatory practice based on measuring a raised blood phenylalanine level. Many factors influence the rate of blood phenylalanine rise so that there are many pitfalls in detecting the 1:10,000 affected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d6ca98b37866d76edb1f437ec724556
https://pubmed.ncbi.nlm.nih.gov/2073089

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Occult Phenylketonuria

Autor: C C, MABRY, T L, NELSON, F A, HORNER

Publikováno v: Clinical Pediatrics. 1:82-86

1. An infant with phenylketonuria who has never had a positive urine FeCl3test is reported.2. Some of the problems concerning the diagnosis of phenylketonuria are discussed.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bed358e73fb717143eb1dc5de50125
https://doi.org/10.1177/000992286200100117

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EVIDENCE FOR THE INTERNAL FEEDBACK PHENOMENON IN HUMAN SUBJECTS: EFFECTS OF ACTH ON PLASMA CRF

Autor: Hollingsworth Dr, Corbin A, C. C. Mabry, Upton Gv

Publikováno v: Acta Endocrinologica. 73:437-443

Corticotrophin (ACTH) was administered to three patients with lipoatrophic diabetes (LD), one hypophysectomized LD patient and one control subject in an effort to simulate the internal feedback mechanism as measured by plasma corticotrophin releasing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bfbbcb4149f79c405003c7b1483b46e
https://doi.org/10.1530/acta.0.0730437

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Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome

Autor: C C, Mabry, I S, Barnett, M W, Hutcheson, H W, Sorenson

Publikováno v: The Journal of pediatrics. 85(4)

A hand, foot, and mouth combination of anomalies, which is apparent on motion, has been traced through eight generations of a southern Appalachian family. The clinical features from birth to old age are presented, and attention is called to the handi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bad2a8415d861555ede001e97bb3dae7
https://pubmed.ncbi.nlm.nih.gov/4443857

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Diencephalic involvement in generalized lipodystrophy: rationale and treatment with the neuroleptic agent, pimozide

Autor: Hollingsworth Dr, Upton Gv, C. C. Mabry, Corbin A

Publikováno v: Acta endocrinologica. 77(2)

Our results indicate that generalized lipodystrophy (GLD) possesses as one of its manifestations, diencephalic neuroendocrinopathy. It has been postulated that deranged hypothalamic catecholaminergic mechanisms lead to the hypersecretion of hypophysi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc82ae9807c4c9f2e14bd73e71cd3ee9
https://pubmed.ncbi.nlm.nih.gov/4607702

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