10 LIBRI IN INGLESE ASSOCIATI CON «ACIDURIA»
Scopri l'uso di
aciduria nella seguente selezione bibliografica. Libri associati con
aciduria e piccoli estratti per contestualizzare il loro uso nella letteratura.
1
Bailey Living with L-2-Hga (l-2 Hydroxyglutaric
Aciduria)
This book is dedicated to Bailey, our wonderful and very brave Staffordshire Bull Terrier, who we sadly lost on January the 25th 2012.
2
A Practical Guide to Canine and Feline Neurology
The deficiency for a specific organic aciduria may be due to lack of an essential
enzyme or lack of function of an enzyme due to a cofactor insufficiency (e.g.,
cobalamin-vitamin B12 is required for normal functioning of methylmalonyl CoA ...
3
Atypical Methylmalonic
Aciduria: Frequency of Mutations in ...
Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin.
Among the few or- ganic acidurias causing progressive neurodegenerative
disorders, L-2-hydroxyglutaric aciduria, glutaric aciduria type I, CblC
methylmalonic aciduria, riboflavine-responsive glutaric aciduria type II, and ethyl
malonic ...
Lewis P. Rowland, Timothy A. Pedley, 2010
5
Inborn Metabolic Diseases: Diagnosis and Treatment
Collectively, the most commonly encountered are maple syrup urine disease (
MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic
aciduria (MMA). They can present clinically as a severe neonatal onset form of ...
John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2006
6
Inherited Metabolic Diseases: A Clinical Approach
Some infants with organic aciduria have been thought to have pyloric stenosis
and some have been treated surgically; however, pyloric stenosis and its
attendant vomiting lead to alkalosis. A patient who seems to have pyloric stenosis
and has ...
Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, 2009
7
Laboratory Guide to the Methods in Biochemical Genetics
Disorder Defective enzyme 2-Keto adipic aciduria 2-Keto glutaric aciduria 2-
Ketothiolase deficiency 2-Methyl 3-hydroxy ... 2-Methylbutyrylglycinuria 3-
Hydroxy 3-methyl glutaric aciduria 3-Methylcrotonylglycinuria 3-Methylglutaconic
aciduria ...
Nenad Blau, Marinus Duran, K. Michael Gibson, 2008
8
Atlas of Metabolic Diseases Second edition
... biotinidase deficiency 43 ketoacidosis biotinidase deficiency 47 glutaric
aciduria 59 holocarboxylase synthetase deficiency 37 3-hydroxyisobutyric
aciduria 80 lactic acidemia 332 malonic aciduria 84 methylmalonic acidemia 21
2-oxoadipic ...
William L Nyhan, Bruce A Barshop, Pinar T. Ozand, 2005
9
Inborn Metabolic Diseases: Diagnosis and Treatment
Collectively, the most commonly encountered are maple syrup urine disease (
MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methyl malonic
aciduria (MMA). They can present clinically as a severe neonatal-onset form of ...
Jean-Marie Saudubray, Georges van den Berghe, John H. Walter, 2011
10
Liver Disease in Children
... Branched-chain amino acid metabolism Isovaleric aciduria Isovaleryl-CoA
dehydrogenase + + + + 3-Methylcrotonylglycinuria 3-Methylcrotonyl-CoA
carboxylase + – + +c 3-Methylglutaconic aciduria 3-Methylglutaconyl-CoA
hydratase + + + 0 ...
Frederick J. Suchy, Ronald J. Sokol, William F. Balistreri, 2014
10 NOTIZIE DOVE SI INCLUDE IL TERMINE «ACIDURIA»
Vedi di che si parla nei media nazionali e internazionali e come viene utilizzato il termine ino
aciduria nel contesto delle seguenti notizie.
Industry Trend Analysis - Commercial Opportunities For Orphan …
... congenital adrenal hyperplasia, congenital hypothyroidism, hyperphenylalaninemia, maple syrup urine disease, isovaleric aciduria, glutaric aciduria type I, ... «Pharmaceuticals & Healthcare Insight, lug 15»
Would I adopt this baby in five days, knowing the blood results? I'm …
Methylmalonic or propionic acidemia, orotic aciduria, severe combined immunodeficiency, pyruvic dehydrogenase deficiency, familial ... «The Express Tribune, giu 15»
I Run 4 community encourages the disabled across the world
... Liam — lives in Ireland, uses a wheelchair, has limited speech ability and lives with a metabolic disorder called Glutaric Aciduria type 1. «The Reporter, giu 15»
Agios Pharmaceuticals Inc. (NASDAQ:AGIO) leukemia drug AG-221 …
... as well as for the Type II D-2 hydroxyglutaric aciduria treatment; and AG-120, an oral inhibitor of the mutated IDH1 protein for the treatment of ... «Inside Trade, giu 15»
Children with rare metabolic disorders struggle to get right diet
... phenylketonuria, propionic academia and glutaric aciduria among others. About one in 2000 children ends up with one of these disorders. «Bangalore Mirror, mag 15»
Scope launches east London Face 2 Face group for parents with …
It all started for Alea when her baby girl Khadijah was diagnosed with Argininosuccinic Aciduria, which led to brain damage, lost sight, ... «East London Advertiser, mag 15»
Agios Pharmaceuticals Inc. (NASDAQ:AGIO) announced that its …
... protein for the treatment of patients with cancers that harbor IDH2 mutations, as well as for the Type II D-2 hydroxyglutaric aciduria treatment; ... «Inside Trade, apr 15»
Alex Ripley, An Inspiration to Many in Falls Church, Dies at 39
... and flown to Denver, Co., which was then the only place in the U.S. With a lab prepared to test for a disease then called pyroglutamic aciduria ... «Falls Church News Press, apr 15»
Parents sue over screening delay for newborn son
... including a dangerous metabolic condition called Argininosuccinic aciduria. The disease causes a massive buildup of ammonia in the blood, ... «Milwaukee Journal Sentinel, mar 15»
Webb City, MO family collecting donations for wheelchair bicycle
Glutaric Aciduria Type 1 is a rare condition found in nearly one of every 30,000 to 40,000 people. A Webb City teenager has the condition, and ... «KOAM-TV, mar 15»
