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Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

JIMD Reports, Volume 25, 2016, Vol.25, p.9-13

2016

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Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

JIMD Reports - Case and Research Reports, 2011/1, 2011-01, Vol.1, p.65-72

2011

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Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

JIMD Reports - Case and Research Reports, 2012/1, 2012-01, Vol.4, p.99-102

2012

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Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

JIMD Reports - Volume 11, 2013, Vol.11, p.49-52

2013

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Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

JIMD Reports Volume 16, 2014, Vol.16, p.15-24

2014

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Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.73-81

2014

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Introduction to Session 6

Twenty-Seventh Symposium on Biotechnology for Fuels and Chemicals, p.909-910

Ladisch, Michael R.

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TMEM165 Deficiency: Postnatal Changes in Glycosylation

JIMD Reports, Volume 26, 2016-01, Vol.26, p.21-29

2016

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Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

JIMD Reports, Volume 27, 2016-01, Vol.27, p.93-99

2016

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Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

JIMD Reports, Volume 22, 2015, Vol.22, p.95-98

2015

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Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

JIMD Reports, Volume 44, 2019, Vol.44, p.17-21

2019

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β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.77-79

2013

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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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News on Clinical Details and Treatment in PGM1-CDG

JIMD Reports, Volume 26, 2016-01, Vol.26, p.77-84

2016

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GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A

JIMD Reports, Volume 38, 2018, Vol.38, p.61-65

2018

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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

JIMD Reports, Volume 43, 2019, Vol.43, p.111-116

2019

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The Second Case of Saposin A Deficiency and Altered Autophagy

JIMD Reports, Volume 44, 2019, Vol.44, p.43-54

2019

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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

JIMD Reports, Volume 23, 2015, Vol.23, p.17-26

2015

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Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

JIMD Reports, Volume 34, 2017, Vol.34, p.33-42

2017

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Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

JIMD Reports, Volume 43, 2019, Vol.43, p.91-101

2019

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Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

JIMD Reports, Volume 31, 2017-01, Vol.31, p.85-93

2017

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Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

JIMD Reports, Volume 43, 2019, Vol.43, p.13-17

2019

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

JIMD Reports, Volume 25, 2016-01, Vol.25, p.95-106

2016

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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

JIMD Reports, Volume 42, 2018, Vol.42, p.19-29

2018

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Further Delineation of the ALG9-CDG Phenotype

JIMD Reports, Volume 27, 2016, Vol.27, p.107-112

2016

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Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

Introduction to Session 6

TMEM165 Deficiency: Postnatal Changes in Glycosylation

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype

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

News on Clinical Details and Treatment in PGM1-CDG

GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

The Second Case of Saposin A Deficiency and Altered Autophagy

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

Further Delineation of the ALG9-CDG Phenotype

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