Results 121 to 130 of about 13,950,912 (413)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Sensory acceptance of organic and conventional food by children in the age of 2 to 7 years [PDF]

, 2007
This study is initialized to find out which sensory factors might influence the acceptance of organic food by young children. 138 children aged from 2 to 7 years were recruited at the German Research Institute of Child Nutrition in Dortmund.
Busch-Stockfisch, M., Gieland, A., Hilbig, A., Kersting, M., Kunert, J., Sailer, O.   +5 more
core  

Is anyone looking at me? Direct gaze detection in children with and without autism [PDF]

, 2008
Atypical processing of eye contact is one of the significant characteristics of individuals with autism, but the mechanism underlying atypical direct gaze processing is still unclear. This study used a visual search paradigm to examine whether the facial
Ashwin, Atsushi Senju, Baranek, Baron-Cohen, Chun, Clifford, Conty, Csibra, Dalton, Gale, Gale, Grice, Happé, Happé, Hiroo Osanai, Hobson, Hood, Jenkins, Johnson, Joseph, Kleinke, Klin, Kylliäinen, Kylliäinen, Lahaie, Langton, Langton, Lopez, Maestro, Martin, Martin, Martin, Mason, Miller, Miller, Mottron, Neumann, Nichols, Osterling, Osterling, O’Riordan, O’Riordan, O’Riordan, Pelphrey, Perrett, Perrett, Plaisted, Ratcliff, Raven, Robson, Robson, Rouse, Sasson, Schultz, Senju, Senju, Senju, Senju, Senju, Seyama, Smith, Speer, Spezio, Sugishita, Teunisse, Toshikazu Hasegawa, Treisman, Valentine, van der Geest, von Grünau, Vuilleumier, Werner, Wolfe, Wollaston, Yin, Yoshikuni Tojo, Yukiko Kikuchi   +76 more
core   +1 more source

CLINICAL AND HEMATOLOGICAL PROFILE OF CHILDREN WITH CYTOPENIAS REFERRED TO THE BRAZILIAN COOPERATIVE GROUP OF PEDIATRIC MYELODYSPLASTIC SYNDROME

EJC Paediatric Oncology, 2023
Caroline Ramalho Rosa, Rafael Balceiro, Aline Tansini, Thaís Regina Toledo De Santis, Gláucia Regina Costa Murra, Eduardo Caetano, Luiz Fernando Lopes, Anita Frisanco Oliveira   +7 more
doaj   +1 more source

ASSESSMENT OF THE QUALITY OF LIFE OF PATIENTS WITH THE JUVENILE IDIOPATHIC ARTHRITIS TREATED BY THE ETANERCEPT

Вопросы современной педиатрии, 2014
Aim: To assess the influence of the genetically engineered biologic drug etanercept on the quality of life of patients with juvenile idiopathic arthritis (JIA).
A. N. Fetisova, E. I. Alexeeva, T. M. Bzarova, S. I. Valieva, V. V. Chernikov, I. V. Vinyarskaya, R. V. Denisova, K. B. Isaeva, E. G. Chistyakova, Т. V. Sleptsova, N. I. Taibulatov   +10 more
doaj   +1 more source

AMINO ACID NITROGEN IN THE SYSTEMIC BLOOD OF CHILDREN IN HEALTH AND DISEASE [PDF]

, 1916
C. J. V. PETTIBONE
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Functional rescue of F508del-CFTR using small molecule correctors

Frontiers in Pharmacology, 2012
High-throughput screens for small molecules that are effective in correcting the functional expression of F508del-CFTR have yielded several promising hits. Two such compounds are currently in clinical trial.
Steven eMolinski, Paul DW Eckford, Stan ePasyk, Saumel eAhmadi, Stephanie eChin, Christine E. Bear   +5 more
doaj   +1 more source

The Surgical Diseases of Children and their Treatment by Modern Methods [PDF]

, 1895
NULL AUTHOR_ID
openalex   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source