Results 181 to 190 of about 9,386,140 (320)

Maximizing the grain growth rate during the disorder‐to‐order transition in block copolymer melts [PDF]

, 2001
W. G. Kim, Bruce A. Garetz, M. C. Newstein, Nitash P. Balsara   +3 more
openalex   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Coronary heart disease: a disorder of growth [PDF]

, 2002
Siân Robinson, David J.P. Barker
openalex   +1 more source

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

Hormone Research in Paediatrics, 2014
Gabriela A. Vasques, I. Arnhold, A. Jorge   +2 more
semanticscholar   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Editorial: Challenges in pediatric endocrinology regarding alterations in glucose metabolism, growth disorders, disorders of sex development, and puberty in adolescents. [PDF]

Front Pediatr
Maltoni G, Candela E, Tornese G.
europepmc   +1 more source

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia) [PDF]

, 2002
Søren K. Kjærgaard
openalex   +1 more source

Metabolic Consequences of Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry, Emily Sheng, Joshua F. Baker   +2 more
wiley   +1 more source

The Treatment of Growth Disorders in Childhood and Adolescence. [PDF]

Dtsch Arztebl Int
Woelfle J, Schnabel D, Binder G.
europepmc   +1 more source

DNA Mapping in Growth and Developmental Disorders

, 1994
Phillips III John A.
openalex   +2 more sources