A rare encounter mucolipidosis type II alpha/beta: A case report.

Pneumothorax as a life-threatening long-term complication with mucolipidosis type II.

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.

Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology.

Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.

LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway.

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.

[Lysosomal enzyme analysis of mucolipidosis type II α/β and type III α/β in two Chinese pedigrees].

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.

Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Mucolipidosis type II and type III: a systematic review of 843 published cases.

UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.

Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome.

Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.

Tracheal and lower airway changes in a patient with mucolipidosis type II.

Hip Morphology in Mucolipidosis Type II.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).

[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β].

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature.

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Site-1 protease and lysosomal homeostasis.

Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India.

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls.

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Early characteristic radiographic changes in mucolipidosis II.

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.

Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood.

[Neonatal mucolipidosis type II].

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

TGN exit of the cation-independent mannose 6-phosphate receptor does not require acid hydrolase binding.