Results 101 to 110 of about 5,048,722 (239)

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II [PDF]

Jornal de Pediatria, 2006
To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre.
Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani, Grupo de Estudos sobre MPS II   +6 more
openaire   +3 more sources

Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu, Batuhan Yeke, Ahmet Ziya Birbilen, Serap Sivri, Özlem Tekşam   +4 more
doaj   +1 more source

Stomatological Problems in Child with the II Type Mucopolysaccharidosis

Česká Stomatologie a Praktické Zubní Lékařství, 2013
Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema

Delhi Journal of Ophthalmology, 2018
Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting ...
Namrata, Rahul Ranjan, Gaurav Arya
doaj   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]

, 2014
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara, Alessandra Zanetti, Andrea Borgo, Angelica Rampazzo, Anna Chiara Frigo, Antonia Pascarella, Daniela Concolino, Elena Procopio, Francesca D’Avanzo, Maurizio Scarpa, Nicoletta Gasparotto, Rosella Tomanin, Rossella Parini   +12 more
core   +1 more source

Instructing and Prolonging Communication for a Young Girl With MPS IIIA Using Applied Behavior Analysis

Behavioral Interventions, Volume 41, Issue 2, April 2026.
ABSTRACT Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome), a rare lysosomal storage disorder, causes significant communication delays and regression in affected children. The majority of children lack or lose verbal communication by 6 years.
Kimberly A. Schreck, Alisha Paxon, Cortney Helsel, Eric Orange   +3 more
wiley   +1 more source

Integrative Multi‐Omics Mendelian Randomization Highlights Causal Autophagy‐Related Genes for Amyotrophic Lateral Sclerosis

Brain and Behavior, Volume 16, Issue 4, April 2026.
Multi‐omics Mendelian randomization reveals causal roles of four autophagy‐related genes (FNBP1, IDUA, C9orf72, USP35) in ALS risk, with FNBP1 and USP35 increasing risk and IDUA and C9orf72 protective, shedding light on autophagy‐mediated mechanisms and offering early evidence of novel therapeutic targets for ALS.
Zheng Jiang, Yan‐Lin Ren, Xiao‐Jing Gu, Wei‐Ming Su, Qing‐Qing Duan, Kang‐Fu Yin, Bei Cao, Jing‐Yu Li, Bo Yan, Yong‐Ping Chen   +9 more
wiley   +1 more source

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Journal of Inborn Errors of Metabolism and Screening, 2020
 ABSTRACT Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations.
L. Giraldo, D. Arturo-Terranova, J. M. Soto   +2 more
semanticscholar   +1 more source