Misdiagnosis in mucopolysaccharidoses
K Wiśniewska, J Wolski, L Gaffke, Z Cyske… - Journal of Applied …, 2022 - Springer
Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in
humans (or 14 diseases if considering one MPS type described to date only in mice) in …
humans (or 14 diseases if considering one MPS type described to date only in mice) in …
Drug Repositioning Applied to Cardiovascular Disease in Mucopolysaccharidosis
GC Villalba Silva, T Steindorff, R Silvestri Schuh… - Life, 2022 - mdpi.com
Mucopolysaccharidoses (MPS) are genetic metabolic diseases characterized by defects in
the activity of lysosomal hydrolases. In MPS, secondary cell disturbance affects pathways …
the activity of lysosomal hydrolases. In MPS, secondary cell disturbance affects pathways …
Heart valve disease in Hurler-Scheie syndrome
MDCG Del Rey, J Castrodeza, Á Pinto… - Cardiology …, 2022 - journals.viamedica.pl
Mucopolysaccharidosis (MPS) syndromes are classified by six subtypes [1].
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive hereditary disease …
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive hereditary disease …
The Relationship Between Carpal Tunnel Syndrome and Cardiac Involvement in Patients with Mucopolysaccharidosis
Background/Aims: Mucopolysaccharidoses (MPSs) are a group of progressive multisystemic
diseases, and it is unknown whether there is a relationship between these system …
diseases, and it is unknown whether there is a relationship between these system …
Мукополисахаридоз I типа (синдром Гурлер–Шейе): клинический случай
НД Вашакмадзе, ОИ Гуменюк… - Вопросы …, 2024 - vsp.spr-journal.ru
Аннотация Обоснование. Мукополисахаридоз I типа (МПС I)—наследственное
заболевание, обусловленное патогенными вариантами в гене IDUA, который кодирует …
заболевание, обусловленное патогенными вариантами в гене IDUA, который кодирует …