Childhood Hypophosphatasia (HPP) Latest Advances

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: March 13, 2023

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.

Journal: Medicine

Published: February 23, 2023

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Journal: International journal of molecular sciences

Published: November 11, 2022

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Journal: International journal of molecular sciences

Published: September 05, 2022

Childhood Hypophosphatasia (HPP) Latest Advances

Find the Latest Research About Childhood Hypophosphatasia (HPP)

Recent advances in the diagnosis and management of childhood hypophosphatasia

Recent advances in the diagnosis and management of childhood hypophosphatasia

Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature.

Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature.

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia.

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia.

Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.

Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.

ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.

ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.

Tissue nonspecific alkaline phosphatase deficiency impairs Purkinje cell development and survival in a mouse model of infantile hypophosphatasia.

Tissue nonspecific alkaline phosphatase deficiency impairs Purkinje cell development and survival in a mouse model of infantile hypophosphatasia.

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.