Results 71 to 80 of about 30,957 (287)
JIMD Reports, 2020 Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression.
Shailly Jain‐Ghai +9 more
semanticscholar +1 more source
Maple syrup urine disease in Brazil: a panorama of the last two decades
Jornal de Pediatria (Versão em Português), 2015 Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber +8 more
doaj +5 more sources
An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for ...
arxiv +1 more source
Journal of Rawalpindi Medical College, 2018 Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Urine Disease (MSUD) and congential adrenal hyperplasia (CAH) are autosomal recessive diseases, with an increased risk of transmission amongst progeny of ...
Hafiz Armaghan Saeed et al.,
doaj
Non-invasive urinary bladder volume estimation with artefact-suppressed bio-impedance measurements [PDF]
arXiv, 2023 Urine output is a vital parameter to gauge kidney health. Current monitoring methods include manually written records, invasive urinary catheterization or ultrasound measurements performed by highly skilled personnel. Catheterization bears high risks of infection while intermittent ultrasound measures and manual recording are time consuming and might ...
arxiv
Rapid identification of pathogenic bacteria using Raman spectroscopy and deep learning [PDF]
Nature Communications 10, 4927 (2019), 2019 Rapid identification of bacteria is essential to prevent the spread of infectious disease, help combat antimicrobial resistance, and improve patient outcomes. Raman optical spectroscopy promises to combine bacterial detection, identification, and antibiotic susceptibility testing in a single step.
arxiv +1 more source
Diagnóstico molecular de la deficiencia de adhesión leucocitaria bovina en terneros holando, mediante qpcr-hrm [PDF]
, 2019 Entrenamiento en técnicas de diagnóstico molecular de enfermedades hereditarias, "Bovine Leucocite adhesion deficiency" (BLAD) bovinos en razas Holando y " Maple Syrup Urine Disease" (MSUD) en la raza Hereford.CONACYT - Consejo Nacional de Ciencia y ...
Castro Rojas, Liz Aurora
core
Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases [PDF]
, 2019 Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA).
Burin, Maira Graeff +11 more
core +1 more source
Anaesthetic management in maple syrup urine disease [PDF]
Anaesthesia, 1996 SummaryTwo children with maple syrup urine disease undergoing emergency and elective surgery are reported. The administration of ketamine to a 12‐month‐old boy without neurological problems and propofol infusion to a 5‐year‐old girl with a history of convulsions, was uneventful.
S. Kahraman +5 more
openaire +3 more sources
Molecular Genetics and Metabolism Reports, 2015 Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
doaj +1 more source