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Nutrition and brain development in early life

Nutrition reviews, 2014-04, Vol.72 (4), p.267-284

2014

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Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference

JIMD Reports - Case and Research Reports, 2012/1, 2012-01, Vol.4, p.29-37

2012

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Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

JIMD Reports, Volume 23, 2015-01, Vol.23, p.1-6

2015

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Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

JIMD Reports - Case and Research Reports, 2012/2, 2012, Vol.5, p.27-33

2012

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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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Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity

JIMD Reports, Volume 23, 2015, Vol.23, p.113-122

2015

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Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria

JIMD Reports, Volume 33, 2017-01, Vol.33, p.41-47

2017

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Serine Protease Inhibitors to Treat Lung Inflammatory Diseases

Advances in experimental medicine and biology, 2021-01, Vol.1304 (2), p.215-226

El Amri, Chahrazade

2021

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Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk

JIMD Reports, Volume 21, 2015-01, Vol.21, p.35-43

2015

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Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

JIMD Reports, Volume 28, 2016-01, Vol.28, p.75-84

2016

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In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History

JIMD Reports, Volume 28, 2016-01, Vol.28, p.105-110

2016

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Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients

JIMD Reports Volume 16, 2014-01, Vol.16, p.95-99

2014

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Molecular Pathogenetic Mechanism of Maternally Inherited Deafness

Annals of the New York Academy of Sciences, 2004-04, Vol.1011 (1), p.259-271

GUAN, MIN-XIN

2004

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A Cause of Permanent Ketosis: GLUT-1 Deficiency

JIMD Reports, Volume 18, 2015-01, Vol.18, p.79-83

2015

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The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

JIMD Reports, Volume 30, 2016, Vol.30, p.95-101

2016

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A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine

JIMD Reports – Case and Research Reports, 2012/6, 2013-01, Vol.9, p.93-96

2013

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Innate and Adaptive Immune Response in Fabry Disease

JIMD Reports, Volume 22, 2015, Vol.22, p.1-10

2015

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Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.63-72

2013

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The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

JIMD Reports - Case and Research Reports, 2012/5, 2013, Vol.8, p.1-6

2013

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The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis

JIMD Reports, Volume 24, 2015-01, Vol.24, p.51-66

2015

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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.39-48

2013

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Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders

JIMD Reports, Volume 31, 2017, Vol.31, p.29-36

2017

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A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

JIMD Reports - Volume 11, 2013, Vol.11, p.93-97

2013

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D-Serine Influences Synaptogenesis in a P19 Cell Model

JIMD Reports - Case and Research Reports, 2012/3, 2012-01, Vol.6, p.47-53

2012

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Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

JIMD Reports, Volume 39, 2018-01, Vol.39, p.31-37

2018

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Nutrition and brain development in early life

Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

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

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria

Serine Protease Inhibitors to Treat Lung Inflammatory Diseases

Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk

Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History

Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients

Molecular Pathogenetic Mechanism of Maternally Inherited Deafness

A Cause of Permanent Ketosis: GLUT-1 Deficiency

The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine

Innate and Adaptive Immune Response in Fabry Disease

Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs

The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

D-Serine Influences Synaptogenesis in a P19 Cell Model

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

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