Výsledky vyhledávání - "Kara B. Pappas"

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Autor: Anthony J Scott, Elizabeth G. Ames, Robert L. Conway, Ayesha Ahmad, Kara B. Pappas, Shawn M. Moloney

Publikováno v: American Journal of Medical Genetics Part A. 182:2704-2708

Classic homocystinuria is due to deficiency of cystathionine beta-synthase (CBS), a pyridoxine-dependent enzyme that, depending on the molecular variants, may be co-factor responsive. Elevated methionine is often used as the primary analyte to detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab1a73a449026f70b42067d1282a89e6
https://doi.org/10.1002/ajmg.a.61815

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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

Autor: Kara B. Pappas, Marissa Younan, Robert Conway

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(4)

We report seven cases from our clinic with transcobalamin receptor deficiency (TCRD). None of our cases have experienced health issues or metabolic decompensation. All have experienced typical growth and development throughout childhood, with our old

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cb99f0271635ef11e3ca69c73c9bba
https://pubmed.ncbi.nlm.nih.gov/34978764

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An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

Autor: Pragya Singh, Elizabeth Secord, Süreyya Savaşan, Kara B. Pappas

Publikováno v: Pediatric Blood & Cancer. 68

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ec6a5f81dc7da835f80edf45e1376cf
https://doi.org/10.1002/pbc.28564

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Sex Chromosome Abnormalities

Autor: Kara B Pappas, Claude J. Migeon

Publikováno v: eLS. :1-9

In human subjects, the sex chromosomes are the X and the Y chromosomes. Normally, a complement of two X chromosomes (46,XX) is seen in females and one X and one Y (46,XY) in males. The X-chromosome includes about 1500 genes, only a few of which are i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d22adc28e13524270473eecf63caa1
https://doi.org/10.1002/9780470015902.a0005943.pub2

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Androgen Insensitivity and Gonadal Dysgenesis

Autor: Claude J. Migeon, Kara B. Pappas

Publikováno v: Pediatric, Adolescent, & Young Adult Gynecology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::805178932163e9cc122ebda69ac94294
https://doi.org/10.1002/9781444311662.ch5

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Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

Autor: Claude J. Migeon, Kara B. Pappas, Amy B. Wisniewski

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 21

Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n =

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53651e435d41eb3c88e215f12e4b60a4
https://doi.org/10.1515/jpem.2008.21.7.625

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