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Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)

Pediatric research, 2007-08, Vol.62 (2), p.225-230

2007

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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Nature communications, 2022-01, Vol.13 (1), p.134-134, Article 134

2022

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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

Pediatric research, 2015-03, Vol.77 (3), p.398-405

2015

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

Pediatric research, 2009-07, Vol.66 (1), p.91-95

2009

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Personalized medicine approach confirms a milder case of ABAT deficiency

Molecular brain, 2016-12, Vol.9 (1), p.93-93, Article 93

2016

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

Neurogenetics, 2015-10, Vol.16 (4), p.325-328

2015

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Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study

Pediatric research, 2023-11, Vol.94 (5), p.1764-1770

2023

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Decline of acute encephalopathic crises in children with Glutaryl-CoA dehydrogenase deficiency identified by newborn screening in germany

Pediatric research, 2007-09, Vol.62 (3), p.357-363

2007

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Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex

Nature (London), 2019-04, Vol.568 (7750), p.127

2019

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In search of druggable targets for GBM amino acid metabolism

BMC cancer, 2017-02, Vol.17 (1), p.162-162, Article 162

2017

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Cryptic chlorination by a non-haem iron enzyme during cyclopropyl amino acid biosynthesis

Nature, 2005-08, Vol.436 (7054), p.1191-1194

2005

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Stereoselective amino acid synthesis by photobiocatalytic oxidative coupling

Nature (London), 2024-05, Vol.629 (8010), p.98

2024

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Alternative Splicing in Acad8 Resulting a Mitochondrial Defect and Progressive Hepatic Steatosis in Mice

Pediatric research, 2011-07, Vol.70 (1), p.31-36

2011

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Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

Acta neuropathologica communications, 2014-01, Vol.2 (1), p.13-13, Article 13

2014

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Wobble tRNA modification and hydrophilic amino acid patterns dictate protein fate

Nature communications, 2021-04, Vol.12 (1), p.2170-2170, Article 2170

2021

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Control of amino acid transport coordinates metabolic reprogramming in T-cell malignancy

Leukemia, 2017-12, Vol.31 (12), p.2771-2779

2017

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Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia

European journal of clinical nutrition, 2007-11, Vol.61 (11), p.1323-1327

2007

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Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I

Nature genetics, 1995-08, Vol.10 (4), p.453-460

1995

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A hepatic amino acid/mTOR/S6K-dependent signalling pathway modulates systemic lipid metabolism via neuronal signals

Nature communications, 2015-08, Vol.6 (1), p.7940-7940, Article 7940

2015

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Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

Pediatric research, 2000-12, Vol.48 (6), p.852-855

2000

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Metabolomic investigation of regional brain tissue dysfunctions induced by global cerebral ischemia

BMC neuroscience, 2016-05, Vol.17 (1), p.25-25, Article 25

2016

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Cancer metabolism: a therapeutic perspective

Nature reviews. Clinical oncology, 2017-01, Vol.14 (1), p.11

2017

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Dietary modifications for enhanced cancer therapy

Nature (London), 2020-03, Vol.579 (7800), p.507

2020

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Polyunsaturated fatty acid status in treated isovaleric acidemia patients

European journal of clinical nutrition, 2016-10, Vol.70 (10), p.1123-1126

2016

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Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-Coa dehydrogenase deficiency

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

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

Personalized medicine approach confirms a milder case of ABAT deficiency

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

Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study

Decline of acute encephalopathic crises in children with Glutaryl-CoA dehydrogenase deficiency identified by newborn screening in germany

Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex

In search of druggable targets for GBM amino acid metabolism

Cryptic chlorination by a non-haem iron enzyme during cyclopropyl amino acid biosynthesis

Stereoselective amino acid synthesis by photobiocatalytic oxidative coupling

Alternative Splicing in Acad8 Resulting a Mitochondrial Defect and Progressive Hepatic Steatosis in Mice

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

Wobble tRNA modification and hydrophilic amino acid patterns dictate protein fate

Control of amino acid transport coordinates metabolic reprogramming in T-cell malignancy

Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia

Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I

A hepatic amino acid/mTOR/S6K-dependent signalling pathway modulates systemic lipid metabolism via neuronal signals

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

Metabolomic investigation of regional brain tissue dysfunctions induced by global cerebral ischemia

Cancer metabolism: a therapeutic perspective

Dietary modifications for enhanced cancer therapy

Polyunsaturated fatty acid status in treated isovaleric acidemia patients

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