Diagnosing Lysosomal Storage Diseases - Histology

Relevant Publications

Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.

Issue Release: 2023

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Issue Release: 2021

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.

Issue Release: 2020

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Issue Release: 2020

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Issue Release: 2019

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.

Issue Release: 2019

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.

Issue Release: 2018

Public Attitudes Toward Expanded Newborn Screening.

Issue Release: 2017

[Late diagnosis of Gaucher\'s disease - care reports].

Issue Release: 2016

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.

Issue Release: 2013

Skeletal abnormalities in lysosomal storage diseases.

Issue Release: 2013

Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Issue Release: 2013

The Fabry cardiomyopathy: models for the cardiologist.

Issue Release: 2011

\'Doctor Google\' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

Issue Release: 2010

Diagnosis of inherited metabolic disorders affecting the nervous system.

Issue Release: 1995

Fluorescence-based diagnosis of lipid storage diseases by analysis of the culture medium of skin fibroblasts.

Issue Release: 1993

[Wolman disease and cholesterol ester storage disease in adults. New means of study and diagnosis].

Issue Release: 1986

The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Issue Release: 1976

How Does Ferroportin Function?

Where is Stratified Squamous Epithelium Found?

What are Arrhythmias?

How are Tissue Samples Prepared for Submission?

Why is Histology Management Important?

What are the Isoforms of GAD?

Why is Inhibiting Cell Wall Synthesis Effective?

How Does Speed Affect Diagnostic Accuracy?

What are the Applications of Mixing in Histology?

What are the Main Techniques Used in Histology?

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