Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

2019 ◽  
Vol 187 (4) ◽  
pp. 530-542 ◽  
Author(s):  
Cyrielle Fouquet ◽  
Marie‐Amelyne Le Rouzic ◽  
Thierry Leblanc ◽  
Fanny Fouyssac ◽  
Guy Leverger ◽  
...  
Keyword(s):  
Childhood Onset ◽  
Sideroblastic Anaemia

Book Review Childhood-Onset Eating Problems: Findings From Research

2002 ◽  
Vol 38 (5) ◽  
pp. 537-537
Author(s):  
EH Wertheim
Keyword(s):  
Eating Problems ◽  
Childhood Onset

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

2020 ◽  
Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein
Keyword(s):  
Young Child ◽  
Genetic Basis ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Childhood Onset

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.

Re-evaluation of the somatotropic axis in patients with childhood-onset GH deficiency during transition to adulthood

2005 ◽  
Vol 113 (S 1) ◽  
Author(s):  
N Unger ◽  
BP Hauffa ◽  
K Mann ◽  
S Petersenn
Keyword(s):  
Transition To Adulthood ◽  
Gh Deficiency ◽  
Childhood Onset ◽  
Somatotropic Axis

HIGH DOSE DIAZEPAM (HDD) IN CHILDHOOD-ONSET EPILEPTIC ENCEPHALOPATHIES WITH SLEEP ACTIVATED EEG (EESA_EEG)

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Hadjiloizou ◽  
B Bourgeois ◽  
F Duffy ◽  
AM Bergin ◽  
M Takeoka ◽  
...  
Keyword(s):  
High Dose ◽  
Childhood Onset ◽  
Epileptic Encephalopathies

Bone health is compromised in adult patients with childhood-onset autoimmune-polyendocrinopathy-candiadis-ectodermal dystrophy (APECED)

2019 ◽  
Author(s):  
Saila Laakso ◽  
Joonatan Borchers ◽  
Sanna Toiviainen-Salo ◽  
Outi Makitie
Keyword(s):  
Bone Health ◽  
Adult Patients ◽  
Childhood Onset ◽  
Autoimmune Polyendocrinopathy

Transition and beyond in childhood onset type 1 diabetes

2014 ◽  
Author(s):  
Suma Uday ◽  
James Yong ◽  
Fiona Campbell ◽  
Ramzi Ajjan
Keyword(s):  
Type 1 Diabetes ◽  
Childhood Onset ◽  
Onset Type

Increasing risk of psychiatric morbidity after childhood onset T1DM: a population-based cohort study

2018 ◽  
Author(s):  
Dybdal D ◽  
Tolstrup JS ◽  
Sildorf SM ◽  
Boisen KA ◽  
Svensson J ◽  
...  
Keyword(s):  
Cohort Study ◽  
Psychiatric Morbidity ◽  
Population Based ◽  
Childhood Onset ◽  
Increasing Risk
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