Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis

Alpha-mannosidosis (AM) is an ultrarare multisystemic disorder caused by alpha-mannosidase deficiency. This is the first comprehensive report on AM in Brazil, analyzing clinical and laboratory data from 14 patients diagnosed between 2001 and 2021. We summarize the patient diagnostic journey in the c...

Full description

Saved in:

Bibliographic Details
Main Authors:	Fabiano de Oliveira Poswar, Tamires Silva Alves, Daniel Rocha de Carvalho, Hélio van der Linden, Jr, Charles Marques Lourenço, Dafne Dain Gandelman Horovitz, Anneliese Barth, Carmen Silvia Curiati Mendes, Ana Maria Martins, Roberto Giugliani
Format:	Article
Language:	English
Published:	Elsevier 2025-06-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	Neurologic manifestations Natural history Lysosomal storage diseases Oligosaccharides
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426925000357
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Infantile Gangliosidosis
by: J Gordon Millichap
Published: (1988-08-01)

Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE
by: Ali K. Saad, et al.
Published: (2025-03-01)

Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective
by: Dafne Dain Gandelman Horovitz, et al.
Published: (2025-03-01)

Neurological manifestations of intussusceptions in a group of patients aged below 5 years
by: Jasim Mohammed hashim
Published: (2012-04-01)

Mpox Virus Infection and Vaccination: Immunopathogenesis and Exploring the Link to Neuropsychiatric Manifestations
by: Helal F. Hetta, et al.
Published: (2024-12-01)

PROFILE OF NEUROLOGICAL MANIFESTATIONS IN PRIMARY SJOGREN’S SYNDROME
by: M S Panchovska, et al.
Published: (2002-06-01)

A case of brainstem encephalitis with acute neuropathy associated with prolonged chikungunya viraemia
by: Tembe Carveth-Johnson, et al.
Published: (2025-01-01)

Prevalence of Neurological Symptoms in Patients with COVID-19 Hospitalized in Hospitals of Arak University of Medical Sciences
by: Alireza Rezaie Ashtiani, et al.
Published: (2024-10-01)

Novel strategies targeting mitochondria-lysosome contact sites for the treatment of neurological diseases
by: Yinyin Xie, et al.
Published: (2025-01-01)

Alpha-mannosidosis and mutational analysis in a Turkish patient
by: Akgün Olmez, et al.
Published: (2003-01-01)

Neurological manifestations of systemic rheumatic diseases. Possibilities of pharmacological
by: T A Raskina, et al.
Published: (2011-12-01)

Two cases of dengue meningitis: a rare first presentation
by: Rudra Prosad Goswami, et al.
Published: (2012-01-01)

Manifestações neurológicas de dengue: estudo de 41 casos Neurological manifestations of dengue: study of 41 cases
by: Maria Lúcia Brito Ferreira, et al.
Published: (2005-06-01)

Impact, Trends, and Visibility of Scientific Publications on Neurological Effects of COVID-19 Vaccine: A Scientometric Analysis
by: Ana Paula Sangama Ramírez, et al.
Published: (2025-04-01)

Wilson’s Disease with Lymphoproliferative Disorder: A Case Report
by: Ashish Jha, et al.
Published: (2025-04-01)

Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge
by: Daniela Arturo-Terranova, et al.
Published: (2025-05-01)

Fertility Management in Cystinosis: A Clinical Perspective
by: Craig B. Langman, et al.
Published: (2024-02-01)

Cobalamin deficiency and pathogenesis of neurological disorders
by: A. V. Pereshein, et al.
Published: (2021-12-01)

The changes of neurologic functions of rats in the modeling of hemorrhagic stroke
by: V. N. Bibikova
Published: (2014-12-01)

From COVID-19 to long COVID; the forms of the neurological manifestations
by: Sana Ahuja, et al.
Published: (2023-10-01)

Sleep Apnea-Related Hypoxemia Predicts Post-Stroke Disability Better Than Apnea-Hypopnea Index
by: Tho Dinh Phung, et al.
Published: (2025-06-01)

SARS-CoV-2 associated encephalitis
by: Jasmina Poluga, et al.
Published: (2025-05-01)

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis
by: Conceição Campanario da Silva Pereira, et al.
Published: (2022-10-01)

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey
by: Karolina M. Stepien, et al.
Published: (2025-05-01)

The rapidly evolving view of lysosomal storage diseases
by: Giancarlo Parenti, et al.
Published: (2021-01-01)

Profile of neurological manifestations in patients with COVID-19: Review of the literature published during the first six months of the pandemic
by: Maria Alejandra Daza-Latorre, et al.
Published: (2022-10-01)

Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital
by: Jaime Lin, et al.
Published: (2007-12-01)

Reconsidered Concept of «Prebiotics» and Their Impact on the Child’s Organism
by: Olga L. Lukoyanova, et al.
Published: (2018-01-01)

Basal cortisol levels and the relationship with clinical symptoms in multiple sclerosis: a systematic review
by: Gabriela Magalhães Pereira, et al.

Performance on the Rey-Osterrieth complex figure test and the correlation with the magnetic resonance imaging brain lesion volume in multi-infract versus small vessel disease dementia
by: Semnić Marija D., et al.
Published: (2021-01-01)

Neurological Manifestations of HEV Infection: A Rare Phenomenon or an Underrecognized Reality?
by: Maider Iza, et al.
Published: (2025-06-01)

Neurological diseases in the context of the COVID-19 pandemic (review of the literature)
by: O. V. Rodionova, et al.
Published: (2020-09-01)

Therapeutic hypothermia and neurological outcome after cardiac arrest
by: Petrović Milovan, et al.
Published: (2011-01-01)

NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS
by: A. S. Kotov, et al.
Published: (2017-12-01)

Editorial: NeuroCOVID. Insights into the clinical manifestations and pathophysiology
by: Alina González-Quevedo, et al.
Published: (2025-02-01)

Significance of Neurological Manifestations and Their Association With Clinical Outcomes in Hospitalized COVID‐19 Patients in Bandar Abbas, Iran: A Cross‐Sectional Study
by: Ahmadagha Negahi, et al.
Published: (2025-04-01)

The Combined Effect of Four Nutraceutical-Based Feed Additives on the Rumen Microbiome, Methane Gas Emission, Volatile Fatty Acids, and Dry Matter Disappearance Using an In Vitro Batch Culture Technique
by: Kelechi A. Ike, et al.
Published: (2024-09-01)

Neurological complications of solid organ transplantation
by: José Luiz Pedroso, et al.

EFFICIENT EXTRACTION OF 2’-FUCOSYLLACTOSE FROM HUMAN MILK: PARAMETER OPTIMIZATION WITH SURFACE RESPONSE
by: Elienae da Silva Gomes, et al.
Published: (2025-07-01)

Structural Diversity of Oligosaccharides Isolated from Milk of Various Cow Breeds
by: Desh Deepak A. P. Singh Chauhan, et al.
Published: (2024-04-01)