Results 31 to 40 of about 15,664 (135)

Niemann - Pick disease associated with hemophagocytic syndrome

Turkish Journal of Hematology, 2010
Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations.
Serap Karaman, Nafiye Urgancı, Günsel Kutluk, Feyzullah Çetinkaya   +3 more
doaj   +3 more sources

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source

The Role of Patients' Treatment Expectations in Ventricular Assist Device Support: Results From a Convergent Mixed Methods Study

Artificial Organs, EarlyView.
This mixed methods study aimed to: (i) identify treatment expectations held by individuals with a ventricular assist device (VAD), (ii) assess the extent to which these expectations have been met, and (iii) examine how treatment expectations relate to VAD‐specific health‐related quality of life (HRQoL) ABSTRACT Objectives Treatment expectations ...
Simon Felix Zerth, Bernd Niemann, Miriam Salzmann‐Djufri, Sandra Semmig‐Könze, Katharina Tigges‐Limmer, Yvonne Brocks, Monika Sadlonova, Anna Markser, Tanja Zimmermann, Lara Kristin Oldach, Stefan Salzmann   +10 more
wiley   +1 more source

Niemann-Pick Disease Type C

Pediatric Neurology Briefs, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
doaj   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, EarlyView.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Hydromulches in Organic Strawberry Production: Effects on Densities of Insect Pests and Natural Enemies

Journal of Applied Entomology, EarlyView.
ABSTRACT Liquid‐sprayable cellulose hydromulches (HM) are alternatives to plastic polyethylene (PE) mulches for weed suppression in organic agriculture. However, their impact on arthropod pests and natural enemies remains unexplored. Various HMs made of shredded newsprint, water and guar gum were compared against white‐on‐black PE mulch, paper sheet ...
Andres Torres‐Moya, Deirdre A. Prischmann‐Voldseth, Greta Gramig   +2 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source