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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1192-1230

2019

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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

American journal of human genetics, 2018-10, Vol.103 (4), p.579-591

2018

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Suggested guidelines for the diagnosis and management of urea cycle disorders

Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.32-32

2012

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MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Journal of the American Society of Nephrology, 2017-01, Vol.28 (1), p.85-93

2017

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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

The New England journal of medicine, 2019-08, Vol.381 (5), p.486-488

2019

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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.697-704

2016

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.611-618

2022

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

American journal of human genetics, 2015-12, Vol.97 (6), p.894-903

2015

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Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

Clinical journal of the American Society of Nephrology, 2010-01, Vol.5 (1), p.133-141

2010

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Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

JAMA neurology, 2016-09, Vol.73 (9), p.1133

2016

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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Genetics in medicine, 2018-02, Vol.20 (2), p.259

2018

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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Genetics in medicine, 2018-02, Vol.20 (2), p.259-268

2018

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Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100977-100977, Article 100977

2023

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Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

Liver transplantation, 2019-06, Vol.25 (6), p.889-900

2019

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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Genetics in medicine, 2020-03, Vol.22 (3), p.610-621

2020

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Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107675-107675, Article 107675

2023

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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

American journal of human genetics, 2016-02, Vol.98 (2), p.358-362

2016

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Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 ( SLC2A2 ) Variants

Genes, 2021-11, Vol.12 (11), p.1785

2021

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Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

Atherosclerosis, 2014-03, Vol.233 (1), p.97-103

2014

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Congenital disorders of glycosylation with defective fucosylation

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1441-1452

2021

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Human mutation, 2005-12, Vol.26 (6), p.513-519

2005

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Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin

Journal of inherited metabolic disease, 2024-05, Vol.47 (5), p.1018-1027

2024

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Effects of Infantile Hypophosphatasia on Human Dental Tissue

Calcified tissue international, 2023-03, Vol.112 (3), p.308-319

2023

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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Suggested guidelines for the diagnosis and management of urea cycle disorders

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 ( SLC2A2 ) Variants

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

Congenital disorders of glycosylation with defective fucosylation

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

Effects of Infantile Hypophosphatasia on Human Dental Tissue

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