10 LIBROS DEL PORTUGUÉS RELACIONADOS CON «ACIDURIA»
Descubre el uso de
aciduria en la siguiente selección bibliográfica. Libros relacionados con
aciduria y pequeños extractos de los mismos para contextualizar su uso en la literatura.
1
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 ...
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
3
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
4
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
5
Bailey Living with L-2-Hga (l-2 Hydroxyglutaric
Aciduria)
Rachel Inchley. RACHEL INCHLEY BAILEY LIVING WITH L-2-I-IGA (L-2 I-
IYDROXYGLUTARIC ACIDURIA) RACHEL INCHLEY BAILEY LIVING WITH L2
HGA L2 HYDROXYGLUTARIC ACIDURIA. Front Cover.
6
Magnetic Resonance of Myelination and Myelin Disorders
44.1 Clinical Features and Laboratory Investigations D-2-Hydroxyglutaric
aciduria is a rare neurometabol- ic disorder with autosomal recessive inheritance
. Two different variants are distinguished: a severe variant and a mild variant. The
two ...
Marjo S. van der Knaap, Jaap Valk,
2005
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
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
9
Textbook Of Biochemistry
Biochemical defect: Orotic aciduria results from deficiency of either or both of the
last two enzymes: orotate phosphoribosyl transferase and OMP decarboxylase (
Figure 20.15). As mentioned earlier, both these enzyme activities are present on
...
10
Metabolic Encephalopathies, Therapy and Prognosis
Clutaric aciduria type II. Coronal T2- weighted image (a) shows signal
abnormalities involving the whole white matter of the centra semio- valia and the
deep white matter of the cerebellar hemispheres. Coronal (b) and sagittal (c) Ti-
weighted ...
10 NOTICIAS EN LAS QUE SE INCLUYE EL TÉRMINO «ACIDURIA»
Conoce de qué se habla en los medios de comunicación nacionales e internacionales y cómo se emplea el término
aciduria en el contexto de las siguientes noticias.
Xuriden (uridine triacetate) now approved for patients with …
Today, the U.S. Food and Drug Administration approved Xuriden (uridine triacetate), the first FDA-approved treatment for patients with hereditary orotic aciduria. «News-Medical.net, Oct 15»
Aciduria orotica ereditaria, FDA approva il 'farmaco orfano' Xuriden …
L'aciduria orotica ereditaria, conosciuta anche come oroticoaciduria ereditaria, è una patologia congenita a trasmissione autosomica recessiva ed è dovuta ad ... «Osservatorio Malattie Rare, Oct 15»
Wellstat Therapeutics Announces FDA Approval of XURIDEN™ to …
Michael K. Bamat, Ph.D., Vice President of Research and Development said, “The FDA's approval of XURIDEN for hereditary orotic aciduria is an important ... «Business Wire, Sep 15»
FDA OKs first drug for rare autosomal recessive disorder
US regulators have green-lighted Xuriden, the first therapy for patients with the ultra rare metabolic disorder hereditary orotic aciduria. The disease, reported in ... «PharmaTimes, Sep 15»
FDA approves new orphan drug to treat rare autosomal recessive …
Today, the U.S. Food and Drug Administration approved Xuriden (uridine triacetate), the first FDA-approved treatment for patients with hereditary orotic aciduria. «FDA.gov, Sep 15»
Kathy's People: When doors get in the way -- making way for Sarah
Sarah was born with glutaric aciduria type 1, a rare disorder that does not allow her to process protein, (By Kathleen Shatt, Correspondent, Capital Gazette). «CapitalGazette.com, Jul 15»
Group helps family get needed home reno for disabled child
NORTH SYDNEY — Mariena Andrews of North Sydney, who has glutaric aciduria type I and cerebral palsy, is getting a $15,000 bath/shower renovation in her ... «Cape Breton Post, Jul 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, developmental delay and ... «East London Advertiser, May 15»
Parents sue over screening delay for newborn son
... took blood from his heel to be screened for 44 rare and treatable disorders, including a dangerous metabolic condition called Argininosuccinic aciduria. «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 his family is ... «KOAM-TV, Mar 15»