Neonatal multiple sulphatase deficiency disorder: biochemical characterization

Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Journal of human genetics·2020

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Human reproduction open·2019

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Human reproduction (Oxford, England)·2019

Body composition and blood pressure in 6-year-old singletons born after pre-implantation genetic testing for monogenic and structural chromosomal aberrations: a matched cohort study.

Human reproduction open·2019

Expanding the clinical spectrum of biallelic ZNF335 variants.

Clinical genetics·2018

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

European journal of human genetics : EJHG·2017

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Journal of inherited metabolic disease·2026

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

Journal of inherited metabolic disease·2026

The Role of Urea Cycle Functional Studies in Preclinical Research.

Journal of inherited metabolic disease·2026

Comparison of imaging findings of surgical necrotizing enterocolitis between extremely preterm and preterm infants.

Pediatric radiology·2026

Optimising Asparaginase Use and Managing Hypersensitivity in Australasia-A Clinical Practice Guideline From the Australian and New Zealand Children's Haematology/Oncology Group.

Journal of paediatrics and child health·2026

Timing of Prenatally Diagnosed Congenital Biliary Dilatation Surgery: A Retrospective Cohort Study.

Journal of hepato-biliary-pancreatic sciences·2026

Cadaveric Case Report of Anterolateral Bowing of Tibia With Histopathological Correlation.

Cureus·2026

Nationwide epidemiology and healthcare burden of pediatric anaphylaxis in Thailand: A population-based study, 2019-2023.

The World Allergy Organization journal·2026

First Report on Neonatal Isolated Submandibular Suppurative Sialadenitis in Preterm Triplet Girls.

Case reports in pediatrics·2026

Related Experiment Videos

Neonatal multiple sulphatase deficiency disorder: biochemical characterization

Related Concept Videos

Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Body composition and blood pressure in 6-year-old singletons born after pre-implantation genetic testing for monogenic and structural chromosomal aberrations: a matched cohort study.

Expanding the clinical spectrum of biallelic ZNF335 variants.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.

The Role of Urea Cycle Functional Studies in Preclinical Research.

Comparison of imaging findings of surgical necrotizing enterocolitis between extremely preterm and preterm infants.

Optimising Asparaginase Use and Managing Hypersensitivity in Australasia-A Clinical Practice Guideline From the Australian and New Zealand Children's Haematology/Oncology Group.

Timing of Prenatally Diagnosed Congenital Biliary Dilatation Surgery: A Retrospective Cohort Study.

Cadaveric Case Report of Anterolateral Bowing of Tibia With Histopathological Correlation.

Nationwide epidemiology and healthcare burden of pediatric anaphylaxis in Thailand: A population-based study, 2019-2023.

First Report on Neonatal Isolated Submandibular Suppurative Sialadenitis in Preterm Triplet Girls.

Related Experiment Videos

Neonatal multiple sulphatase deficiency disorder: biochemical characterization

Related Concept Videos

Related Articles