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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.322-333

2019

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A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency

Human molecular genetics, 2017-11, Vol.26 (22), p.4406-4415

2017

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A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

Human molecular genetics, 2020-08, Vol.29 (13), p.2171-2184

2020

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A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

Human molecular genetics, 2014-10, Vol.23 (20), p.5429-5440

2014

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Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency

Human molecular genetics, 2019-09, Vol.28 (17), p.2885-2899

2019

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Amino Acids and Muscle Loss with Aging

The Journal of nutrition, 2006, Vol.136 (1S), p.277S-280S

2006

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Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide

The Journal of nutrition, 2020-10, Vol.150 (Suppl 1), p.2494S-2505S

Stipanuk, Martha H

2020

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Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I

Human molecular genetics, 2015-08, Vol.24 (16), p.4504-4515

2015

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Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis

Clinical chemistry (Baltimore, Md.), 2019-11, Vol.65 (11), p.1460-1462

2019

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

Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1764-1782

2009

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Increased C3 Acylcarnitine Concentration in a Newborn

Clinical chemistry (Baltimore, Md.), 2016-10, Vol.62 (10), p.1410-1412

Peake, Roy W A

2016

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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Human molecular genetics, 2012-03, Vol.21 (6), p.1410-1418

2012

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S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Human molecular genetics, 2013-04, Vol.22 (8), p.1615-1624

2013

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Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency

Laboratory medicine, 2022-05, Vol.53 (3), p.e59-e61

2022

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Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.711-722

2005

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Protein digestibility-corrected amino acid scores and digestible indispensable amino acid scores differentially describe protein quality in growing male rats

The Journal of nutrition, 2015-02, Vol.145 (2), p.372-379

2015

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Inborn Errors of Proline Metabolism

The Journal of nutrition, 2008-10, Vol.138 (10), p.2016S-2020S

2008

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Role of amino acid transporters in amino acid sensing

The American journal of clinical nutrition, 2014, Vol.99 (1), p.223S-230S

Taylor, Peter M

2014

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A diet-induced mouse model for glutaric aciduria type I

Brain (London, England : 1878), 2006-04, Vol.129 (4), p.899-910

2006

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Inherited Disorders of Lysine Metabolism: A Review

The Journal of nutrition, 2020-10, Vol.150 (Suppl 1), p.2556S-2560S

2020

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Perspective: Developing a Nutrient-Based Framework for Protein Quality

The Journal of nutrition, 2023-08, Vol.153 (8), p.2137-2146

2023

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Some Insect Species Are Good-Quality Protein Sources for Children and Adults: Digestible Indispensable Amino Acid Score (DIAAS) Determined in Growing Pigs

The Journal of nutrition, 2022-04, Vol.152 (4), p.1042-1051

2022

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Incubator type affects human blastocyst formation and embryo metabolism: a randomized controlled trial

Human reproduction (Oxford), 2022-11, Vol.37 (12), p.2757-2767

2022

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Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

Neurosurgery, 2012-10, Vol.71 (4), p.N10-N12

2012

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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency

A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Amino Acids and Muscle Loss with Aging

Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide

Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I

Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis

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

Increased C3 Acylcarnitine Concentration in a Newborn

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

Protein digestibility-corrected amino acid scores and digestible indispensable amino acid scores differentially describe protein quality in growing male rats

Inborn Errors of Proline Metabolism

Role of amino acid transporters in amino acid sensing

A diet-induced mouse model for glutaric aciduria type I

Inherited Disorders of Lysine Metabolism: A Review

Perspective: Developing a Nutrient-Based Framework for Protein Quality

Some Insect Species Are Good-Quality Protein Sources for Children and Adults: Digestible Indispensable Amino Acid Score (DIAAS) Determined in Growing Pigs

Incubator type affects human blastocyst formation and embryo metabolism: a randomized controlled trial

Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

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