Organic acidurias in adults: late complications and management

Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia

(2017) S. C. Grünert et al.   Orphanet Journal of Rare Diseases

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

(2017) Nikolas Boy et al.   Orphanet Journal of Rare Diseases

Methylmalonic and propionic acidemias

(2016) Jamie L. Fraser et al.   CURRENT OPINION IN PEDIATRICS

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

(2016) Marloes E.M. Vester et al.   EUROPEAN JOURNAL OF PEDIATRICS

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

(2016) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autism in patients with propionic acidemia

(2016) Peter Witters et al.   MOLECULAR GENETICS AND METABOLISM

Ten years of specialized adult care for phenylketonuria – a single-centre experience

(2016) Ulrike Mütze et al.   Orphanet Journal of Rare Diseases

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

(2015) F. Charbit-Henrion et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Optic neuropathy in methylmalonic acidemia and propionic acidemia

(2015) Lidia Martinez Alvarez et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review

(2015) Marloes E. M. Vester et al.   Forensic Science Medicine and Pathology

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

(2015) Donna B. Raval et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impact of age at onset and newborn screening on outcome in organic acidurias

(2015) Jana Heringer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Estrogen receptor beta signaling alters cellular inflammasomes activity after global cerebral ischemia in reproductively senescence female rats

(2015) Juan Pablo de Rivero Vaccari et al.   JOURNAL OF NEUROCHEMISTRY

Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

(2015) Jennifer L. Sloan et al.   JOURNAL OF PEDIATRICS

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

(2015) T. M. Pierson et al.   NEUROGENETICS

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

(2015) Nikolas Boy et al.   Orphanet Journal of Rare Diseases

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up

(2015) Chiara Arrizza et al.   TRANSPLANT INTERNATIONAL

Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis

(2015) Ali Tunç Tuncel et al.   PLoS One

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

(2014) E. H. Baker et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma

(2014) Matthias Zielonka et al.   JOURNAL OF CHILD NEUROLOGY

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

(2014) Sowmiya Moorthie et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Cardiomyopathy in pregnancy

(2014) Jennifer Lewey et al.   SEMINARS IN PERINATOLOGY

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1

(2013) Bastian Thies et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

(2013) Ma Luz Couce et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Monogenic diseases that can be cured by liver transplantation

(2013) Stefano Fagiuoli et al.   JOURNAL OF HEPATOLOGY

Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease

(2013) A. Brassier et al.   MOLECULAR GENETICS AND METABOLISM

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

(2013) A. Haarmann et al.   MOLECULAR GENETICS AND METABOLISM

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

(2013) M. Herskovitz et al.   NEUROLOGY

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

(2013) Mathilde Nizon et al.   Orphanet Journal of Rare Diseases

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

(2012) J. Gerard Loeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Promising outcomes in glutaric aciduria type I patients detected by newborn screening

(2012) Chee-Seng Lee et al.   METABOLIC BRAIN DISEASE

Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

(2012) Krista Viau et al.   MOLECULAR GENETICS AND METABOLISM

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation

(2012) Masayoshi Nagao et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

(2012) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist

(2012) Marina A. Morath et al.   PEDIATRIC NEPHROLOGY

Propionic acidemia: To liver transplant or not to liver transplant?

(2012) Kimberly A. Chapman et al.   PEDIATRIC TRANSPLANTATION

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

(2011) Daniela R. Melo et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

(2011) Jessica Lamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A series of pregnancies in women with inherited metabolic disease

(2011) Janneke G Langendonk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Transition of young adults with phenylketonuria from pediatric to adult care

(2011) Ulrike Mütze et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Subacute Bilateral Visual Loss in Methylmalonic Acidemia

(2011) Ghislaine Traber et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Cardiac Disease in Methylmalonic Acidemia

(2011) Carlos E. Prada et al.   JOURNAL OF PEDIATRICS

Liver transplantation for propionic acidemia in children

(2011) Roshni Vara et al.   LIVER TRANSPLANTATION

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

(2011) Konstantina Fragaki et al.   MITOCHONDRION

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

(2011) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

(2011) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of propionic acidemia

(2011) Loren Pena et al.   MOLECULAR GENETICS AND METABOLISM

Living-donor liver transplantation for propionic acidemia

(2011) Mureo Kasahara et al.   PEDIATRIC TRANSPLANTATION

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

(2010) Hissa Moammar et al.   ANNALS OF SAUDI MEDICINE

Maternal isovaleric acidemia: Observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy

(2010) C. Castelnovi et al.   CLINICA CHIMICA ACTA

Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature

(2010) Jan Marquard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

(2009) Zoë R. Williams et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

(2009) Kevin A. Strauss et al.   BRAIN

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

(2009) Inga Harting et al.   BRAIN

Glutaric aciduria type 1 presenting with epilepsy

(2009) VERITY M MCCLELLAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

(2009) F. Hörster et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

(2009) E. Martín-Hernández et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

(2009) Stéphane Romano et al.   JOURNAL OF PEDIATRICS

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism

(2008) Sven Wolfgang Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Acute decompensation of isovaleric acidemia induced by Graves’ disease

(2008) Antoine Kimmoun et al.   INTENSIVE CARE MEDICINE

Causes of and diagnostic approach to methylmalonic acidurias

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Maternal glutaric acidemia, type I identified by newborn screening

(2008) Eric A. Crombez et al.   MOLECULAR GENETICS AND METABOLISM

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

(2008) Cyril Gitiaux et al.   MOVEMENT DISORDERS

Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

(2008) Alireza Radmanesh et al.   PEDIATRIC RADIOLOGY