New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease [PDF]
, 2007 Rossi, Emiliano
core +1 more source
Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency. [PDF]
Muscle Nerve, 2011 Zaidman CM +5 more
europepmc +1 more source
, 1986 Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase ...
EA Haan (14480475) +9 more
core
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. [PDF]
J Gen Intern Med, 2009 Patil R, Depriest JL.
europepmc +1 more source
Lysosomal acid lipase deficiency – early diagnosis is the key
, 2019 Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may ...
Feldman A +3 more
core
[Myopathy caused by acid maltase deficiency in an adult].
Revista medica de Chile, 1996 We report a 46 years old male presenting with tetraparesis and severe respiratory involvement. He had moderately elevated serum creatine phosphokinase values and the electromyography showed myopathic alterations and irritative signs. In the muscle biopsy, a vacuolar myopathy with increased collagen deposits was found.
L, Cartier, J G, Cea, A, Slachevsky
openaire +1 more source
Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
, 2016 Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland Metabolic Unit, Salford Royal Hospital NHS Foundation Trust, Salford, UK Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of ...
Sharma R, Su K, Donaldson E
core
Iron Deficiency Anemia and School Participation [PDF]
Iron-deficiency anemia is among the worldç—´ most widespread health problems, especially for children, but it is rarely studied by economists. This paper evaluates the impact of a health intervention delivering iron supplementation and deworming drugs to
Gustavo J. Bobonis
core
Postprandial Blood Glucose Lowering Effect of Urtica cannabina L. and Its Chemical Profiling via UPLC-Triple-TOF MS/MS. [PDF]
J Food SciLi Z +6 more
europepmc +1 more source
Omega-3 fatty acid deficiency and osteoporosis
, 2013 The essential polyunsaturated fatty acids (PUFAs) are divided into two main classes: n-3 (ω-3) and n-6 (ω-6). The most common source of n-6 fatty acids is linoleic acid (LA) which is found in high concentrations in various vegetable oils.
Lauretani F. +4 more
core