[HTML][HTML] Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
AAM Morris, V Kožich, S Santra, G Andria… - Journal of inherited …, 2017 - Springer
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …
[HTML][HTML] Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami… - Orphanet journal of rare …, 2018 - Springer
Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …
[HTML][HTML] Enteric Campylobacter: purging its secrets?
E Crushell, S Harty, F Sharif, B Bourke - Pediatric research, 2004 - nature.com
Campylobacterial infections are the most common cause of bacterial enterocolitis in
humans. Among children, especially in developing countries, Campylobacter infections can …
humans. Among children, especially in developing countries, Campylobacter infections can …
A prospective study of the oral manifestations of Crohn's disease
S Harty, P Fleming, M Rowland, E Crushell… - Clinical …, 2005 - Elsevier
Background & Aims: Recent studies suggest that the mouth may be involved frequently in
patients with Crohn's disease (CD). The aim of this study was to document prospectively the …
patients with Crohn's disease (CD). The aim of this study was to document prospectively the …
[PDF][PDF] Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
R Kopajtich, TJ Nicholls, J Rorbach… - The American Journal of …, 2014 - cell.com
Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from
defective mitochondrial energy production through oxidative phosphorylation. These defects …
defective mitochondrial energy production through oxidative phosphorylation. These defects …
[HTML][HTML] ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
EJR Jansen, S Timal, M Ryan, A Ashikov… - Nature …, 2016 - nature.com
The V-ATPase is the main regulator of intra-organellar acidification. Assembly of this
complex has extensively been studied in yeast, while limited knowledge exists for man. We …
complex has extensively been studied in yeast, while limited knowledge exists for man. We …
Importance of parental conceptual model of illness in severe recurrent abdominal pain
E Crushell, M Rowland, M Doherty, S Gormally… - …, 2003 - publications.aap.org
Objectives. Recurrent abdominal pain (RAP) affects up to 15% of children. A
biopsychosocial approach to the treatment of children with RAP has been proposed as an …
biopsychosocial approach to the treatment of children with RAP has been proposed as an …
Identification of a mutation in LARS as a novel cause of infantile hepatopathy
JP Casey, P McGettigan, N Lynam-Lennon… - Molecular genetics and …, 2012 - Elsevier
Infantile hepatopathies are life-threatening liver disorders that manifest in the first few
months of life. We report on a consanguineous Irish Traveller family that includes six …
months of life. We report on a consanguineous Irish Traveller family that includes six …
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
M Huemer, D Diodato, D Martinelli… - Journal of inherited …, 2019 - Wiley Online Library
Aim To explore the clinical presentation, course, treatment and impact of early treatment in
patients with remethylation disorders from the European Network and Registry for …
patients with remethylation disorders from the European Network and Registry for …
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Purpose Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an
autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system …
autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system …