Results 71 to 80 of about 2,907,636 (184)

Hypomagnesemia and vitamin D deficiency complicating bisphosphonate induced hypocalcaemia [PDF]

, 2012
Zolendronic acid is a potent bisphosphonate that is used to treat patients with metastatic cancer by reducing bone pain and preventing skeletal complications of bone metastasis.
Bigeni, Josephine, Vella, Antoine
core  

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

, 1997
We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra-and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and
Grattagliano, B, Vanhoof, F., Lombet, J, Soyeur, D, Verloes, A., Koulischer, L., Massin, M, Rigo, J   +7 more
core   +1 more source

Bestimmung der Maltase in der Hefe: (II. Mitteilung über Maltase)

, 1920
BESTIMMUNG DER MALTASE IN DER HEFE: (II. MITTEILUNG ÜBER MALTASE) Details: Zeitschrift für physiologische Chemie: 1.1877-20.1895 Hoppe-Seyler's Zeitschrift für physiologische Chemie: 21.1895- 112.1921 (-) Hoppe-Seyler's Zeitschrift für ...
Willstätter, Richard Werner Steibelt
core   +2 more sources

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels

, 2022
A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies ...
A Pollard (8603646), Brendan Crotty (13060500), X Dennett (13611976), J Hammond (12147390), R Hawkins (9890897), I Trounce (13377921), J M Sands (13611979), S Anderson (7736003), E A Haan (13611982), E Byrne (7943465)   +9 more
core  

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

, 2014
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme.
Majid Alfadhel, Rana Kattan
core   +1 more source

Bile Acid Induced Diarrhoea Pathophysiological and Clinical Aspects [PDF]

, 2008
A common cause for referral to gastroenterologists is chronic watery diarrhoea. Approximately 40% of these patients have idiopathic bile acid malabsorption (BAM) – a condition with unknown aetiology.
Bajor, Antal
core   +1 more source

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease). [PDF]

Paediatr Child Health, 2019
Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C.   +9 more
europepmc   +1 more source

Magnesium deficiency-induced changes in organic acid metabolism of Citrus sinensis roots and leaves

, 2013
Organic acid (OA) metabolisms are of fundamental importance but very limited data are available on the responses of plant OA metabolisms to Mg-deficiency. Seedlings of Citrus sinensis (L.) Osbeck cv. Xuegan were irrigated with Mg-deficient (0, 50, or 500
C.P. Zhou, X. You, G.H. Yang, Y.B. Lu, L.T. Yang, L.S. Chen   +5 more
core   +1 more source

Aromatic L-amino acid decarboxylase deficiency: perspectives on diagnosis and management

, 2013
Stacey KH Tay,1,2 Furene SJ Wang,2 Jeremy BY Lin2 1Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 2Khoo Teck Puat-National University Children’s Medical Institute, National University ...
Wang FSJ, Tay SKH, Lin JBY
core  

Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. [PDF]

Neurology, 2014
Beltran Papsdorf TB, Howard JF, Chahin N.   +2 more
europepmc   +1 more source