Results 71 to 80 of about 5,265,871 (311)

Correction to: Sharing is caring: a call for a new era of rare disease research and development

Orphanet Journal of Rare Diseases, 2023
Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh, Paul Howard   +6 more
doaj   +1 more source

Nemeth, Lou and Silverman, Estelle (Box 91, Folder 7)

, 1988
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  

Special Populations in Pivotal Clinical Trials: Eligibility and Supporting Evidence for Exclusion in EMA‐Authorised Medicines

Clinical Pharmacology &Therapeutics, EarlyView.
Evidence on the efficacy and safety of medicines supporting marketing authorization is largely derived from randomized controlled trials, yet these trials often exclude populations likely to use the medications in clinical practice. This study assessed eligibility of special populations, defined as pregnant and breast‐feeding individuals, elderly ...
Maja J. Jørgensen, Débora D. Gräf, Christine E. Hallgreen   +2 more
wiley   +1 more source

Ribosomopathies: how a common root can cause a tree of pathologies

Disease Models & Mechanisms, 2015
Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA).
Nadia Danilova, Hanna T. Gazda
doaj   +1 more source

Braff, Milton and Hilda (Box 90, Folder 12)

, 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  

Model‐Informed Dose Optimization of Anakinra in Preterm Neonates Implications for Safe and Effective Dosing

Clinical Pharmacology &Therapeutics, EarlyView.
Anakinra, an interleukin‐1 receptor antagonist, shows promise for reducing inflammatory complications of premature birth. However, the pharmacokinetics (PK) of anakinra in neonates has not been characterized, limiting evidence‐based dosing. This study aimed to develop a population PK model for anakinra to guide dosing in preterm neonates.
Jia Li, David K. Metz, Elys Green, Gergely Toldi, Robert Galinsky, Megan Clark, Rebecka Atkinson, Ina Rudloff, Josephine C. Owen, Sara K. DiSimone, Samuel C. Forster, Steven X. Cho, Atif Majid, Graeme R. Polglase, Marcel Favilla, Pramod Pharande, Atul Malhotra, Calum T. Roberts, Scott H. Stansfield, Arvind Sehgal, Kenneth Tan, Alistair J. Gunn, Philip J. Berger, Alex Veldman, Rod W. Hunt, Claudia A. Nold‐Petry, Marcel F. Nold, Carl M. J. Kirkpatrick   +27 more
wiley   +1 more source

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD Reports, 2019
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency.
Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry   +12 more
doaj   +1 more source

Rare diseases and orphan drugs.

Annali dell'Istituto superiore di sanita, 2011
According to the Regulation (EC) N. 141/2000 of the European Parliament and of the Council, rare diseases are life-threatening or chronically debilitating conditions, affecting no more than 5 in 10 000 persons in the European Community. It is estimated that between 6000 to 8000 distinct rare diseases affect up to 6% of the total EU population ...
Domenica Taruscio, Fiorentino Capozzoli, Claudio Frank   +2 more
openaire   +3 more sources

Siegel, Mildred Stember (Box 91, Folder 18)

, 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  

Advancing Pregnancy and Pediatric Science through the NIH Transporter Elucidation Network

Clinical Pharmacology &Therapeutics, EarlyView.
Human gestation is characterized by dynamic changes in maternal physiology and maturation of tissue functions before and after birth. The fetus and neonate are highly dependent upon transfer of maternal nutrients via the placenta and lactating mammary gland, which frequently involve selective membrane transporter proteins.
Joanne Wang, Jashvant D Unadkat, Samuel LM Arnold, John K Fallon, Pouria Fattahi, Dan Dongeun Huh, Nicholas Ieronimakis, Edward J Kelly, Svetlana Lutsenko, Robert M Stroud, Jacqueline B Tiley, Jia Yang, Xujia Zhou, Hao Zhu, Rajini Rao, Kathleen M Giacomini, Lauren M Aleksunes   +16 more
wiley   +1 more source