Results 31 to 40 of about 6,097 (205)
Bases moleculars de la cistinúria [PDF]
, 2018 Els cDNA identificats actualment de transportadors d'aminoàcids en mamífers poden ser agrupats en quatre famílies. Una d'aquestes famílies la componen les proteïnes rBAT i la cadena pesada (hc) de l'antigen de superfície de membrana anomenat 4F2. Els RNA
Barceló, P. +14 more
core
Archives of Internal Medicine, 1915 Cystinuria is a rare but very interesting disease. Its chief interest is from the point of view of body metabolism and the various careful studies of this disease have added much to our knowledge of protein katabolism. The treatment of the disease has received but little consideration.
openaire +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander +9 more
wiley +1 more source
Mechanisms of human kidney stone formation [PDF]
, 2014 The precise mechanisms of kidney stone formation and growth are not completely known, even though human stone disease appears to be one of the oldest diseases known to medicine.
Coe, Fredric L. +4 more
core +1 more source
Dipeptide Absorption in Cystinuria [PDF]
Clinical Science, 1970 Absorption of a dipeptide and its constituent amino-acids has been studied by a perfusion technique in a patient with cystinuria and in a normal subject. Though the cystinuric patient was unable to absorb the dibasic amino-acid lysine in its free form, the dipeptide glycyl-L-lysine was well absorbed.
David Perrett, C. D. Holdsworth, Hellier
openaire +5 more sources
Mechanisms and therapeutic potential of disulphidptosis in cancer
Cell Proliferation, Volume 58, Issue 1, January 2025.SLC7A11 plays a pivotal role in tumour development by facilitating cystine import to enhance glutathione synthesis and counteract oxidative stress. Disulphidptosis, an emerging form of cell death observed in cells with high expression of SLC7A11 under glucose deprivation, is regulated through reduction–oxidation reactions and disulphide bond formation.
Yanhu Li +12 more
wiley +1 more source
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Diabetic ketoacidosis (DKA) is a common initial presentation of type 1 diabetes mellitus (T1DM) in children occurring in up to 40% of cases. DKA can also be associated with severe complications, including nephrolithiasis. We present the case of a 12 years and 8‐month‐old boy who developed acute kidney injury (AKI) secondary to bilateral urinary ...
Fabio Rotondo +6 more
wiley +1 more source
Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R +7 more
core +1 more source
Ureteroscopic lithotripsy for ureteral stones in children using holmium: yag laser energy: results of a multicentric survey [PDF]
, 2019 BACKGROUND: Holmium:YAG (Ho:YAG) laser lithotripsy has broadened the indications for ureteroscopic stone managements in adults, but few evidence are currently available in the pediatric population. OBJECTIVE: This article aimed to assess the outcome
Bagnara, V. +5 more
core +1 more source