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Optimisation of children z-score calculation based on new statistical techniques

PloS one, 2018-12, Vol.13 (12), p.e0208362-e0208362

2018

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Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.102-102, Article 102

2021

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Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature

BMC pediatrics, 2022-05, Vol.22 (1), p.247-247, Article 247

2022

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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.138-138, Article 138

2021

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Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.69-6, Article 69

2018

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Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Genetics in medicine, 2020-02, Vol.22 (2), p.268-279

2020

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Central nervous involvement is common in PGM1-CDG

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.200-204

2018

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Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108434-108434, Article 108434

2024

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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

The journal of clinical endocrinology and metabolism, 2017-04, Vol.102 (4), p.1375-1386

2017

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Beyond pancreatic insufficiency and liver disease in cystic fibrosis

European Journal of Pediatrics, 2016-07, Vol.175 (7), p.881-894

2016

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Pseudohyperglycemia due to glucometer interference in galactosemia

Clinical chemistry and laboratory medicine, 2024-04, Vol.62 (5), p.e107-e109

2024

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Renal involvement in PMM2-CDG, a mini-review

Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.292-296

2018

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

American journal of human genetics, 2019-05, Vol.104 (5), p.835-846

2019

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A coffee bean in an infant: Call the endoscopist

Journal of paediatrics and child health, 2017-05, Vol.53 (5), p.516-516

2017

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Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.618-621

2018

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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

Genetics in medicine, 2020-06, Vol.22 (6), p.1102-1107

2020

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Isolated sulfite oxidase deficiency

Journal of inherited metabolic disease, 2018, Vol.41 (1), p.101-108

2018

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.5-28

2019

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Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings

Ophthalmic genetics, 2021-08, Vol.42 (4), p.480-485

2021

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Liver involvement in kidney disease and vice versa

Pediatric nephrology (Berlin, West), 2018-06, Vol.33 (6), p.957-971

2018

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Cystic Fibrosis Related Liver Disease: Research Challenges and Future Perspectives

Journal of pediatric gastroenterology and nutrition, 2017-10, Vol.65 (4), p.443-448

2017

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TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

Genetics in medicine, 2022-04, Vol.24 (4), p.894-904

2022

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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy

Clinical genetics, 2021-10, Vol.100 (4), p.453-461

2021

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Optimisation of children z-score calculation based on new statistical techniques

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Central nervous involvement is common in PGM1-CDG

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

Beyond pancreatic insufficiency and liver disease in cystic fibrosis

Pseudohyperglycemia due to glucometer interference in galactosemia

Renal involvement in PMM2-CDG, a mini-review

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

A coffee bean in an infant: Call the endoscopist

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

Isolated sulfite oxidase deficiency

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings

Liver involvement in kidney disease and vice versa

Cystic Fibrosis Related Liver Disease: Research Challenges and Future Perspectives

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy

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