Drug treatment of inborn errors of metabolism: a systematic review

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

(2012) M. Mokhtarani et al.   MOLECULAR GENETICS AND METABOLISM

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

(2011) Gianfranco Sebastio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DNA Methylation Suppresses Expression of the Urea Cycle Enzyme Carbamoyl Phosphate Synthetase 1 (CPS1) in Human Hepatocellular Carcinoma

(2011) Hongyan Liu et al.   AMERICAN JOURNAL OF PATHOLOGY

Coenzyme Q deficiency in muscle

(2011) Eva Trevisson et al.   CURRENT OPINION IN NEUROLOGY

A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure

(2011) Rumiko Izumi et al.   INTERNAL MEDICINE

Diagnosis and management of glutaric aciduria type I – revised recommendations

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

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

(2011) Nenad Blau et al.   MOLECULAR GENETICS AND METABOLISM

Chronic management and health supervision of individuals with propionic acidemia

(2011) V. Reid Sutton et al.   MOLECULAR GENETICS AND METABOLISM

Acute management of propionic acidemia

(2011) Kimberly A. Chapman et al.   MOLECULAR GENETICS AND METABOLISM

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency

(2011) Johannes Häberle   Therapeutics and Clinical Risk Management

Isolated remethylation disorders: do our treatments benefit patients?

(2010) Manuel Schiff et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

(2010) Bianca T van Maldegem et al.   PEDIATRIC RESEARCH

Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome

(2010) Kristin M Santa   PHARMACOTHERAPY

Tratamiento con N-carbamil glutamato en acidemia propiónica descompensada con hiperamoniemia

(2009) S. Fernández de Miguel et al.   ANALES DE PEDIATRIA

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

(2009) Arturo Borzutzky et al.   CLINICAL IMMUNOLOGY

Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia

(2009) Bernd C. Schwahn et al.   EUROPEAN JOURNAL OF PEDIATRICS

Biotin-Responsive Basal Ganglia Disease: A Treatable and Reversible Neurological Disorder of Childhood

(2009) P.S. Bindu et al.   JOURNAL OF CHILD NEUROLOGY

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

(2009) L. Tabatabaie et al.   MOLECULAR GENETICS AND METABOLISM

Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

(2009) T. El-Hajj et al.   NEUROPEDIATRICS

A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases

(2008) Salvatore DiMauro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

(2008) Philippe M. Campeau et al.   MOLECULAR GENETICS AND METABOLISM

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

(2008) Virginie Levrat et al.   Orphanet Journal of Rare Diseases

The Primary Hyperoxalurias

(2008) Amy E. Bobrowski et al.   SEMINARS IN NEPHROLOGY