Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes

GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults.

European journal of endocrinology·2015

Expression of transmembrane carbonic anhydrases IX and XII in ovarian tumours.

Histopathology·2006

Carbonic anhydrase XII is a marker of good prognosis in invasive breast carcinoma.

British journal of cancer·2003

Enzyme replacement therapy: from concept to clinical practice.

Acta paediatrica (Oslo, Norway : 1992). Supplement·2003

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Journal of medical genetics·2003

Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·2002

Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases.

Clinical genetics·2026

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

Clinical genetics·2026

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Clinical genetics·2026

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Clinical genetics·2026

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

Clinical genetics·2026

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

Molecular Prevalence of Human Astrovirus Among Children Under Five Years of Age With Gastroenteritis in Ilorin Metropolis, North-Central Nigeria: A Cross-Sectional Study.

Health science reports·2026

Downregulation of alcohol dehydrogenase family proteins suggests disrupted retinol metabolism in neonatal respiratory distress syndrome: an umbilical cord blood proteomics study.

Frontiers in pediatrics·2026

Navigating neonatal thrombosis: contemporary insights into a complex disorder in a unique population.

Frontiers in pharmacology·2026

Safety and surgical outcomes of sodium fluorescein-guided pediatric brain tumor surgery: a retrospective before-and-after single-center cohort study.

Frontiers in surgery·2026

Comparison of outcomes of open, laparoscopic, and robot-assisted laparoscopic pyeloplasty in children with pelviureteric junction obstruction: a systematic review and meta-analysis.

Translational andrology and urology·2026

Neurological Assessment Tools and Inflammatory Biomarkers for Predicting Cerebral Palsy in Neonatal HIE.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Related Experiment Videos

Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes

Related Concept Videos

GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults.

Expression of transmembrane carbonic anhydrases IX and XII in ovarian tumours.

Carbonic anhydrase XII is a marker of good prognosis in invasive breast carcinoma.

Enzyme replacement therapy: from concept to clinical practice.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease.

Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases.

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Molecular Prevalence of Human Astrovirus Among Children Under Five Years of Age With Gastroenteritis in Ilorin Metropolis, North-Central Nigeria: A Cross-Sectional Study.

Downregulation of alcohol dehydrogenase family proteins suggests disrupted retinol metabolism in neonatal respiratory distress syndrome: an umbilical cord blood proteomics study.

Navigating neonatal thrombosis: contemporary insights into a complex disorder in a unique population.

Safety and surgical outcomes of sodium fluorescein-guided pediatric brain tumor surgery: a retrospective before-and-after single-center cohort study.

Comparison of outcomes of open, laparoscopic, and robot-assisted laparoscopic pyeloplasty in children with pelviureteric junction obstruction: a systematic review and meta-analysis.

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Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes

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