Keyword

propionic acidemia

Description: An inherited metabolic disorder caused by deficient propionyl-CoA carboxylase activity, impairing the breakdown of certain amino acids and fats.

Primary topic: Metabolism and Genetic Disorders (84%)

Wikidata ID: wiki/Q7250337

OpenAlex ID: keywords/propionic-acidemia

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

2014 · Matthias R Baumgartner, Friederike Hörster, et al. · Orphanet Journal of Rare Diseases · 706

PDF

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

2001 · Thomas H Zytkovicz, Eileen F Fitzgerald, et al. · Clinical Chemistry · 505

PDF

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

1995 · Mohamed S Rashed, Pinar T Ozand, et al. · Pediatric Research · 342

Branched-chain organic acidurias

2002 · H. Ogier de Baulny, J.M. Saudubray · Seminars in Neonatology · 325

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

2021 · Patrick Forny, Friederike Hörster, et al. · Journal of Inherited Metabolic Disease · 288

PDF

Methylmalonic and propionic aciduria

2006 · Federica Deodato, Sara Boenzi, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 286

Propionyl-CoA carboxylase – A review

2017 · Parith Wongkittichote, Nicholas Ah Mew, et al. · Molecular Genetics and Metabolism · 262

PDF

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

2015 · Stefan Kölker, Angeles Garcia Cazorla, et al. · Journal of Inherited Metabolic Disease · 251

Urinary Excretion of l-Carnitine and Acylcarnitines by Patients with Disorders of Organic Acid Metabolism: Evidence for Secondary Insufficiency of l-Carnitine

1984 · R A Chalmers, C R Roe, et al. · Pediatric Research · 248

‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry

2006 · Carlo Dionisi‐Vici, Federica Deodato, et al. · Journal of Inherited Metabolic Disease · 243

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

2015 · Stefan Kölker, Vassili Valayannopoulos, et al. · Journal of Inherited Metabolic Disease · 236

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.

1979 · F X Coude, L Sweetman, et al. · Journal of Clinical Investigation · 214

PDF

Methylmalonic and propionic acidemias: clinical management update

2016 · Jamie L. Fraser, Charles P. Venditti · Current Opinion in Pediatrics · 208

Methylmalonic and propionic acidaemias: Management and outcome

2005 · H. Ogier De Baulny, J. F. Benoist, et al. · Journal of Inherited Metabolic Disease · 197

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

2006 · Marina A. Schwab, Sven W. Sauer, et al. · Biochemical Journal · 192

PDF

Physiology and pathophysiology of organic acids in cerebrospinal fluid

1993 · G. F. Hoffmann, W. Meier‐Augenstein, et al. · Journal of Inherited Metabolic Disease · 191

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

2013 · Sarah C Grünert, Stephanie Müllerleile, et al. · Orphanet Journal of Rare Diseases · 181

PDF

Metabolomics Identifies Perturbations in Human Disorders of Propionate Metabolism

2007 · William R Wikoff, Jon A Gangoiti, et al. · Clinical Chemistry · 170

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

2009 · Yves de Keyzer, Vassili Valayannopoulos, et al. · Pediatric Research · 169

Dialysis in neonates with inborn errors of metabolism

1999 · F Schaefer · Nephrology Dialysis Transplantation · 169

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

1999 · Edwin W. Naylor, Donald H. Chace · Journal of Child Neurology · 167

Apoptotic death in adenocarcinoma cell lines induced by butyrate and other histone deacetylase inhibitors

1997 · John A. McBain, Alan Eastman, et al. · Biochemical Pharmacology · 167

PDF

Propionicacidemia, a New Inborn Error of Metabolism

1968 · F A Hommes, J R G Kuipers, et al. · Pediatric Research · 160

PDF

Natural history of propionic acidemia

2011 · Loren Pena, Jill Franks, et al. · Molecular Genetics and Metabolism · 159

Clinical approach to inherited metabolic disorders in neonates: an overview

2002 · J.M. Saudubray, M.C. Nassogne, et al. · Seminars in Neonatology · 147

Works count: 1,911

Citation count: 34,570