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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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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.437-437, Article 437

2022

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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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Genotype-Phenotype Correlations in PMM2-CDG

Genes, 2021-10, Vol.12 (11), p.1658

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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Congenital veno-venous malformations of the liver: Widely variable clinical presentations

Journal of gastroenterology and hepatology, 2008-08, Vol.23 (8pt2), p.e390-e394

2008

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Revisiting mitochondrial diagnostic criteria in the new era of genomics

Genetics in medicine, 2018-04, Vol.20 (4), p.444-451

2018

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Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation

Journal of pediatric gastroenterology and nutrition, 2020-12, Vol.71 (6), p.720-725

2020

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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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Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study

Hepatology (Baltimore, Md.), 2020-02, Vol.71 (2), p.658-669

2020

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Kingʼs Variceal Prediction Score: A Novel Noninvasive Marker of Portal Hypertension in Pediatric Chronic Liver Disease

Journal of pediatric gastroenterology and nutrition, 2017-04, Vol.64 (4), p.518-523

2017

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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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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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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Genetics in medicine, 2019-05, Vol.21 (5), p.1181-1188

2019

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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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Autism in patients with propionic acidemia

Molecular genetics and metabolism, 2016-12, Vol.119 (4), p.317-321

2016

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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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A rare cause of persisting anaemia in a patient with a failing Fontan circulation

Cardiology in the young, 2017-01, Vol.27 (1), p.176-177

2017

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Normal liver stiffness and influencing factors in healthy children: An individual participant data meta‐analysis

Liver international, 2020-11, Vol.40 (11), p.2602-2611

2020

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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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Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines

Journal of cystic fibrosis, 2017-07, Vol.16 (4), p.510-518

2017

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Intravenous Immunoglobulins in Refractory Childhood‐Onset Epilepsy: Effects on Seizure Frequency, EEG Activity, and Cerebrospinal Fluid Cytokine Profile

Epilepsia (Copenhagen), 2007-09, Vol.48 (9), p.1739-1749

2007

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

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

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

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

Genotype-Phenotype Correlations in PMM2-CDG

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

Congenital veno-venous malformations of the liver: Widely variable clinical presentations

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation

Beyond pancreatic insufficiency and liver disease in cystic fibrosis

Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study

Kingʼs Variceal Prediction Score: A Novel Noninvasive Marker of Portal Hypertension in Pediatric Chronic Liver Disease

Pseudohyperglycemia due to glucometer interference in galactosemia

A coffee bean in an infant: Call the endoscopist

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Isolated sulfite oxidase deficiency

Autism in patients with propionic acidemia

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

A rare cause of persisting anaemia in a patient with a failing Fontan circulation

Normal liver stiffness and influencing factors in healthy children: An individual participant data meta‐analysis

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

Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines

Intravenous Immunoglobulins in Refractory Childhood‐Onset Epilepsy: Effects on Seizure Frequency, EEG Activity, and Cerebrospinal Fluid Cytokine Profile

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