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Enzymes / Carbonic anhydrase / Carbonic anhydrase inhibitors / Hyperammonemia / Propionyl-CoA carboxylase / Pyruvate carboxylase / Biotin / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Acetazolamide / Chemistry / Medicine / Health


Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
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Document Date: 2014-02-13 12:45:25

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City

Seattle / B. / Barcelona / Cervera / Valencia / Vancouver / /

Company

Fleming / acyl-CoA / Agilent / The Leiden Open Variation Databank / K. MacKenzie / Wyeth / Suzuki / Knudsen / 7Biochemical Genetics Laboratory / /

Country

United States / Canada / /

Currency

pence / USD / /

/

Event

FDA Phase / Product Issues / /

Facility

Birmingham Children’s Hospital / University of British Columbia / Family Research Institute / BC Children’s Hospital / Murdoch Childrens Research Institute / Royal Children’s Hospital / University of Washington / University of Melbourne / Laboratory Medicine / Hospital Foundation / /

IndustryTerm

active site / carrier detection using differential enzyme inhibition / Online Mendelian Inheritance / metal / data management / zinc-binding site / Web Resources The URLs / /

MarketIndex

RNA / /

MedicalCondition

hyperammonemic encephalopathy / primary CA-VA deficiency / Clinical Inherited Metabolic Disorders / dysfunction / infectious hepatitis / respiratory alkalosis / pyruvate dehydrogenase complex deficiency / mild axial hypotonia / II deficiency / encephalopathy / CA-VA Deficiency CA-VA deficiency / Car5A deficiency / Biochemical Diseases / partial CPS1 deficiency / hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome / illness / MS / former disorders / hypoglycemia / primary and secondary hyperammonemic disorders / nuclear-encoded ATPase deficiency / Car5B deficiency / CA-VA deficiency / intercurrent illness / placenta previa / disease / metabolic acidosis / infantile hyperammonemic encephalopathy / B deficiency / compensated metabolic acidosis / CPS1 deficiency / lethargy / vomiting / primary CPS1 deficiency / Hyperammonia-hyperornithinemia-homocitrullinuria syndrome / hypernatremia / lactic acidosis / acetyl-CoA carboxylase deficiency / pyruvate carboxylase deficiency / inborn errors of metabolism / liver injury / deficiency / Biotinidase deficiency / recessively inherited parkinsonism / mild MCAD deficiency / /

MedicalTreatment

experimental therapies / antibiotics / diet therapy / protein-restricted diet / resuscitation / /

Movie

A.I. / /

MusicGroup

B.C. / /

Organization

University of Washington / Royal Children’s Hospital / Rare Diseases Foundation / B.C. Children’s Hospital Foundation / American Society of Human Genetics / Birmingham Children’s Hospital / Therapeutics / Child and Family Research Institute / St. Louis University School of Medicine / BC Children’s Hospital / Genomic / European Union / University of Melbourne / Melbourne / CA VB / University of British Columbia / Murdoch Childrens Research Institute / /

Person

C.R. Dolan / Colin J. Ross / Klaus / V / T.D. Bird / M.P. Adam / K. Stephens / R.A. Pagon / /

Position

Walker / RT / General / /

Product

sodium bicarbonate / dextrose / acetazolamide / acetic acid / glycine / COS-7 / provision / CPS1 / individuals / /

ProvinceOrState

Virginia / British Columbia / California / /

PublishedMedium

The American Journal of Human Genetics / Molecular Biology / /

Technology

Genomics / antibodies / ultrasound / cloning / MRI / DNA Chip / gene expression / Clinical Genomics / spectroscopy / http / /

URL

http /

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