Respiratory Failure in Acid Maltase Deficiency
Pediatric Neurology Briefs, 2001 Sleep-disordered breathing (SDB) and respiratory failure (RF) were studied in 27 patients with juvenile and adult acid maltase deficiency (AMD) and compared with polysomnography outcomes at the University of Essen, Germany.
J Gordon Millichap
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Glycogenosis type II (acid maltase deficiency) [PDF]
Muscle and Nerve, 1995 Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous.
Marian A Kroos +2 more
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Late infantile acid maltase deficiency: a case report
The Turkish Journal of Pediatrics, 1999 A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented. His symptoms were restricted to skeletal muscle. There is commonly a correlation between the amount of residual acid maltase activity and the severity of ...
Mine Çalışkan +4 more
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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) [PDF]
Orphanet Journal of Rare DiseasesClinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up.
Giancarlo Parenti +21 more
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Statin‐disclosed acid maltase deficiency [PDF]
Journal of Internal Medicine, 2005 Contains fulltext : 48436.pdf (Publisher’s version ) (Open Access)
Voermans, N.C. +4 more
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An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease [PDF]
Italian Journal of PediatricsBackground Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or
Francesco Leo +8 more
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Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction [PDF]
Frontiers in GeneticsGlycogen storage disease II or Pompe disease (PD), is a rare autosomal recessive disorder due to biallelic pathogenic variants in GAA, resulting in the enzymatic deficiency of alpha-1,4-glucosidase. Two clinical forms are recognized, namely, early onset (
Monica Sciacco +8 more
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Identification of two subtypes of infantile acid maltase deficiency
Journal of Pediatrics, 2000 Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. We identified 12 infants with acid maltase deficiency who had a similar clinical presentation but less severe cardiomyopathy and absence of left ventricular outflow ...
Frank Martiniuk
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Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]
Iranian Journal of Neonatology, 2022 Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe +4 more
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Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement
Case Reports in Neurology, 2022 Late-onset Pompe disease (LOPD) is a rare autosomal recessive metabolic disorder that is caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for glycogen breakdown.
Jasem Al-Hashel, Ismail Ismail
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