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Defects of thiamine transport and metabolism

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.577-585

Brown, Garry

2014

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Next generation mitochondrial disease: change in diagnostics with eyes on therapy

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.387-388

2015

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Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

Human mutation, 2013-10, Vol.34 (10), p.1366-1370

2013

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Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Annals of neurology, 2005-08, Vol.58 (2), p.234-241

2005

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Pyruvate dehydrogenase deficiency and the brain

Developmental medicine and child neurology, 2012-05, Vol.54 (5), p.395-396

BROWN, GARRY

2012

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β-Elimination of an aziridine to an allylic amine: a mechanistic study

Journal of physical organic chemistry, 2011-12, Vol.24 (12), p.1144-1150

2011

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JIMD Reports - Volume 11

2013, 2013

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Pyruvate dehydrogenase deficiency and the brain

Developmental medicine and child neurology, 2012-05, Vol.54 (5), p.395-396

BROWN, GARRY

2012

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

JIMD Reports, Volume 15, 2015, Vol.15, p.13-27

2015

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JIMD Reports Volume 16

2014, 2014

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JIMD Reports - Volume 10

2013, 2013

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JIMD Reports, Volume 14

2014, 2013

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JIMD Reports - Case and Research Reports, Volume 13

2014, 2013

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A SURF1 gene mutation presenting as isolated leukodystrophy

Annals of neurology, 2001-06, Vol.49 (6), p.797-800

2001

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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

EMBO molecular medicine, 2018-11, Vol.10 (11), p.n/a

2018

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.459-467

2012

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Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2079-2084

2010

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Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

JIMD Reports, Volume 15, 2015-01, Vol.15, p.39-45

2015

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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

JIMD Reports, Volume 14, 2014-01, Vol.14, p.77-85

2014

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

JIMD Reports - Volume 10, 2013-01, Vol.10, p.1-9

2013

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Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.99-102

2013

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Mortality in Patients with Morquio Syndrome A

JIMD Reports, Volume 15, 2015, Vol.15, p.59-66

2015

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Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

JIMD Reports - Case and Research Reports, Volume 13, 2014-01, Vol.13, p.65-72

2014

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Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

JIMD Reports, Volume 17, 2014-01, Vol.17, p.83-90

2014

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High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.103-108

2013

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Defects of thiamine transport and metabolism

Next generation mitochondrial disease: change in diagnostics with eyes on therapy

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Pyruvate dehydrogenase deficiency and the brain

β-Elimination of an aziridine to an allylic amine: a mechanistic study

JIMD Reports - Volume 11

Pyruvate dehydrogenase deficiency and the brain

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

JIMD Reports Volume 16

JIMD Reports - Volume 10

JIMD Reports, Volume 14

JIMD Reports - Case and Research Reports, Volume 13

A SURF1 gene mutation presenting as isolated leukodystrophy

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

Mortality in Patients with Morquio Syndrome A

Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

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