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

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India

(2016) A. Radha Rama Devi et al.   BRAIN & DEVELOPMENT

Gabapentin can significantly improve dystonia severity and quality of life in children

(2016) Natasha Yuan-Kim Liow et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

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

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest

(2016) Johannes Zschocke et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MRS features during encephalopathic crisis period in 11years old case with GA-1

(2015) Serpil Kurtcan et al.   BRAIN & DEVELOPMENT

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a ‘Rosetta Stone’ study

(2015) Markus C Elze et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

(2015) Dagmar Jamiolkowski 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

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

Glutaric aciduria type 1: neuroimaging features with clinical correlation

(2015) Shaimaa Abdelsattar Mohammad et al.   PEDIATRIC RADIOLOGY

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

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

(2014) Sven F. Garbade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expanded newborn screening in New South Wales: missed cases

(2014) Jane Estrella et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

(2013) Qiao Wang et al.   BRAIN & DEVELOPMENT

Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia

(2013) Daniel E Lumsden et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report

(2013) Marco Marigliano et al.   DIABETES CARE

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

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

The peripartum management of a patient with glutaric aciduria type 1

(2013) Unyime S. Ituk et al.   JOURNAL OF CLINICAL ANESTHESIA

Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

(2013) Gwendolyn Gramer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A case of choreoathetosis due to glutaric aciduria type 1

(2013) Jianfang Ma et al.   MOVEMENT DISORDERS

Intestinal microbiota metabolism of l-carnitine, a nutrient in red meat, promotes atherosclerosis

(2013) Robert A Koeth et al.   NATURE MEDICINE

Teaching NeuroImages: Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

(2013) N. Young-Lin et al.   NEUROLOGY

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

(2013) M. Herskovitz et al.   NEUROLOGY

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

(2013) Johannes Pfeil et al.   Orphanet Journal of Rare Diseases

Acquired Protein Energy Malnutrition in Glutaric Acidemia

(2013) Liqiao Ma et al.   PEDIATRIC DERMATOLOGY

Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

(2012) Z. Patay et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Glutaric aciduria type I: A treatable neurometabolic disorder

(2012) Mahesh Kamate et al.   Annals of Indian Academy of Neurology

Dietary practices in glutaric aciduria type 1 over 16 years

(2012) H. Gokmen-Ozel et al.   JOURNAL OF HUMAN NUTRITION AND DIETETICS

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

(2012) Peter Bross et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

(2012) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

GLUTARIC ACIDURIA TYPE 1 PRESENTING AS SUBDURAL HAEMATOMA

(2012) Kursat Bora Carman et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

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

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

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

(2012) Saumya S. Jamuar et al.   MOLECULAR GENETICS AND METABOLISM

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

(2012) Stefan Kölker et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Leukoencephalopathies Associated with Macrocephaly

(2012) Deborah Renaud   SEMINARS IN NEUROLOGY

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

(2011) Jose Felix Marti-Masso et al.   HUMAN GENETICS

GRADE guidelines: 1. Introduction—GRADE evidence profiles and summary of findings tables

(2011) Gordon Guyatt et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1

(2011) Tereza Moore et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diagnosis and management of glutaric aciduria type I – revised recommendations

(2011) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deep brain stimulation in children: experience and technical pearls

(2011) Ellen L. Air et al.   Journal of Neurosurgery-Pediatrics

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

Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency)

(2011) P. Singh et al.   NEUROLOGY

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

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

(2010) Sven W. Sauer et al.   BRAIN

Rating scales for dystonia in cerebral palsy: reliability and validity

(2010) E MONBALIU et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

(2010) Osama Y. Al-Dirbashi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

(2010) George van der Watt et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

(2010) Yuichi Mushimoto et al.   MOLECULAR GENETICS AND METABOLISM

Cerebral White Matter

(2009) Jeremy D. Schmahmann et al.   Annals of the New York Academy of Sciences

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

Pilot Study on Trihexyphenidyl in the Treatment of Dystonia in Children With Cerebral Palsy

(2009) James Rice et al.   JOURNAL OF CHILD NEUROLOGY

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency

(2009) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening

(2009) M. H. Beauchamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I

(2009) Alfredo Cerisola et al.   PEDIATRIC NEUROLOGY

Glutaric aciduria type I: outcome following detection by newborn screening

(2008) S. Bijarnia et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Psychological adjustment to chronic disease

(2008) Denise de Ridder et al.   LANCET

Maternal glutaric acidemia, type I identified by newborn screening

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

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

(2008) Avihu Boneh 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