Results 31 to 40 of about 3,517 (179)

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry [PDF]

, 2007
Congenital disorders of glycosylation (CDGs) are a family of N-linked glycosylation defects associated with severe clinical manifestations. In CDG type-I, deficiency of lipid-linked oligosaccharide assembly leads to the underoccupancy of N-glycosylation ...
Hennet, T, Hülsmeier, A J, Paesold-Burda, P   +2 more
core   +1 more source

Vaccination strategies for people living with inborn errors of metabolism in Brazil

Jornal de Pediatria, 2023
Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos, Carolina S. Aranda, Rita S.B. Cardona, Ana Maria Martins, Dirceu Solé, Sue Ann C. Clemens, Ralf Clemens   +6 more
doaj   +1 more source

A fruktóz és a fruktózintolerancia | Fructose and fructose intolerance [PDF]

, 2016
Absztrakt A fruktóz gyümölcsökben és zöldségekben természetesen előforduló monoszacharid. Az utóbbi évtizedekben világszerte jelentősen megnövekedett a fruktóz bevitele, elsősorban az ...
Buzás, György Miklós
core   +1 more source

Corrigendum: Unmet Psychosocial Needs of Patients Newly Diagnosed with Ulcerative Colitis: Results from the Nationwide Prospective Cohort Study in Korea

Gut and Liver, 2021
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic
Jung Rock Moon, Chang Kyun Lee, Sung Noh Hong, Jong Pil Im, Byong Duk Ye, Jae Myung Cha, Sung-Ae Jung, Kang-Moon Lee, Dong Il Park, Yoon Tae Jeen, Young Sook Park, Jae Hee Cheon, Hyesung Kim, BoJeong Seo, Youngdoe Kim, Hyo Jong Kim, the MOSAIK study group of the Korean Association for the Study of Intestinal Diseases (KASID)   +16 more
doaj   +1 more source

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. [PDF]

JIMD Rep, 2012
Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A.   +11 more
europepmc   +3 more sources

Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia [PDF]

, 1978
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted inphenylalanine and tyrosine. At 91/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The
Arnold Silverman, Bolstein, Bélanger, Carver, Chakrabarti, Daloze, Doris Doeden, Edward R.B. McCabe, Fish, Gentz, Gentz, Halsted, Halvorsen, Hardwick, Jerry G. Kohlhoff, Jones, Kang, Kasai, Lawrence J. Koep, Lindblad, Lindemann, MacSween, McCaman, Phillips, Piomelli, Robert O. Fisch, Sandell, Scriver, Starzl, Strife, Thomas E. Starzl, Tomokuni, Weinberg, Williams, Williams   +34 more
core   +1 more source

Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

SAGE Open Medical Case Reports, 2019
Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver.
Martha Catalina Morales-Alvarez, Maria Laura Ricardo-Silgado, Hernan Nicolas Lemus, Deyanira González-Devia, Carlos O Mendivil   +4 more
doaj   +1 more source

Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study

JHEP Reports, 2023
Background & Aims: Lean patients with non-alcoholic fatty liver disease (NAFLD) represent 10–20% of the affected population and may have heterogeneous drivers of disease.
Melanie Zheng, Daniel Q. Huang, Chigoziri Konkwo, Saaket Agrawal, Amit V. Khera, Rohit Loomba, Sílvia Vilarinho, Veeral Ajmera   +7 more
doaj   +1 more source