Results 111 to 120 of about 5,265,871 (311)

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy

Health Science Reports
Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity.
Laiba Jalal, Areeba Aamir Ali Basaria, Hermann Yokolo   +2 more
doaj   +1 more source

Weinberg, Joe (Box 91, Folder 22)

, 1977
Series VIII: Audiocassettes features informal oral histories about the Hebrew Orphan Asylum and its alumni.Digital recordingDigital finding ...
Hebrew Orphan Asylum of New York
core  

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Lifson, Miriam (Box 91, Folder 5)

, 1987
Series VIII: Audiocassettes features informal oral histories about the Hebrew Orphan Asylum and its alumni.Digital recordingDigital finding ...
Hebrew Orphan Asylum of New York
core  

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Raskin, Hy (Box 91, Folder 8)

, 1976
Series VIII: Audiocassettes features informal oral histories about the Hebrew Orphan Asylum and its alumni.Digital recordingDigital finding ...
Hebrew Orphan Asylum of New York
core  

Artificial Intelligence‐Driven Natural Product Drug Discovery: From Computational Genome Mining to Clinical Translation

Medicinal Research Reviews, EarlyView.
ABSTRACT Natural products (NPs) have historically yielded numerous therapeutic agents, yet their integration into modern drug discovery has been constrained by chemical complexity, low abundance, laborious dereplication, and limited target annotation.
Antonio Lavecchia
wiley   +1 more source

Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report. [PDF]

Ann Med Surg (Lond), 2023
Echeverri-Mejía C, Ríos-Orozco SU, Lozada-Martínez ID, Narvaez-Rojas AR.   +3 more
europepmc   +1 more source

Siegel, Harry and Sally (Box 91, Folder 16)

, 1987
Series VIII: Audiocassettes features informal oral histories about the Hebrew Orphan Asylum and its alumni.Digital recordingDigital finding ...
Hebrew Orphan Asylum of New York
core  

Time‐to‐Event Analysis of Clinical Milestones in the ALS Natural History Consortium Dataset

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Study of clinical milestones, particularly intermediate events like loss of ambulation, in large amyotrophic lateral sclerosis (ALS) cohorts is limited. Here, we leverage the ALS Natural History Consortium dataset to evaluate the time‐to‐event for several outcomes and prognostic factors that predict risk. Methods Longitudinal
Kelly Duffy, Kelly Gwathmey, David Schneck, Andres Arguedas, Annette Xenopoulos‐Oddsson, Terry Heiman‐Patterson, Senda Ajroud‐Driss, Ximena Arcila‐Londono, James Wymer, Nicholas Olney, Ghazala Hayat, Christian Lunetta, Federica Cerri, Tawfiq Al‐Lahham, Alex Sherman, Mehdi Ghasemi, Erjia Cui, Mark Fiecas, David Walk   +18 more
wiley   +1 more source