Acid maltase deficiency--Pompe\u27s disease [PDF]
, 2011 Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism.
Tariq, M., Ahmed, Shahid, Jamil, Sajjad
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Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 1, January 2026.ABSTRACT The interest in pigmented grains has grown substantially in recent years. Pigmented rice is crucial for diversifying agricultural production and promoting healthier, more balanced diets. This systematic review updates and discusses literature published between 2019 and 2024 on the bioactive compounds in pigmented rice, their potential health ...
Adolfo Pinheiro de Oliveira +2 more
wiley +1 more source
A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]
, 2012 Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan +7 more
core +1 more source
Neural regulation of acid maltase in an unusual adult onset deficiency
, 1994 In a 48-year-old female, the first symptoms apparently manifested themselves 18 years before, with occasional tripping and weakness in both legs. During the next 18 years, weakness progressed and the patient developed a waddling gait; she became unable ...
M. Sterlicchio +7 more
core +2 more sources
Muscle computed tomography in adult-onset acid maltase deficiency
, 1998 Nine patients with adult-onset acid maltase deficiency (Pompe's disease) were examined clinically and with computed tomography (CT). The CT scan showed early and severe involvement of the muscles of trunk and thighs, with selective sparing of the tensor ...
van der Ree, TC +4 more
core +1 more source
Critical Micronutrients in Pregnancy, Lactation, and Infancy: Considerations on Vitamin D, Folic Acid, and Iron, and Priorities for Future Research [PDF]
, 2011 The Early Nutrition Academy and the European Commission-funded EURRECA Network of Excellence jointly sponsored a scientific workshop on critical micronutrients in pregnancy, lactation, and infancy. Current knowledge and unresolved questions on the supply
Hermoso, Maria +7 more
core +1 more source
Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex
, 2022 Adequate intake of nutrients such as essential fatty acids (EFA) are critical in cystic fibrosis (CF). The clinical course of deterioration of lung function in people with CF has been shown to relate to nutrition.
Martin Donnelley +13 more
core +1 more source
Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease
Therapeutics and Clinical Risk Management, 2009 Michael BeckChildren’s Hospital, University of Mainz, Mainz, GermanyAbstract: Pompe disease is a lysosomal storage disorder characterized by muscle weakness and cardiomyopathy.
Michael Beck
doaj
Acid maltase deficiency--Pompe's disease.
JPMA. The Journal of the Pakistan Medical Association, 2012 Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD).
Jamil, Sajjad, Ahmed, Shahid, Tariq, M.
openaire +1 more source
Diagnosing nutrient limitations to lentil and chickpea in acid soils of Bangladesh [PDF]
, 2010 Lentil and chickpea are dietary staple crops in Bangladesh but their local production has been markedly declining in recent decades, mainly due to competition with irrigated cereals.
Marufuzzaman, M. +5 more
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