Results 31 to 40 of about 67,248 (260)

Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report [PDF]

Malaysian Family Physician
Glycogenic hepatopathy (GH) is a rare but reversible hepatic condition associated with poorly controlled type 1 diabetes mellitus (T1DM). It results from excessive glycogen accumulation in hepatocytes, leading to hepatomegaly and elevated liver enzyme ...
Nordiyana Zainul Abidin, Ying Ying Ng, Rosnani Zakaria, Noor Aellmas Samsuddin   +3 more
doaj   +1 more source

Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child [PDF]

Journal of Clinical and Diagnostic Research, 2016
Hepatoblastoma is an uncommon malignant liver tumour diagnosed usually during the first three years of life. It presents as abdominal mass with elevated alpha fetoprotein levels. The definite diagnosis requires histopathological confirmation.
Nadia Shirazi, Brahma Prakash Kalra, Nowneet Kumar Bhat, Sanobar Wasim   +3 more
doaj   +1 more source

Glycogen storage disease type 1a in the Ohio Amish

JIMD Reports, 2022
Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas.
Ethan M. Scott, Olivia K. Wenger, Elizabeth Robinson, Kristina Colling, Miraides F. Brown, Jennifer Hershberger, Kadakkal Radhakrishnan   +6 more
doaj   +1 more source

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]

, 2019
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas, Demuth, Ilja, Haberbosch, Linus, Hollstein, Tim, Kassner, Ursula, Soll, Dominik, Spira, Dominik, Spranger, Joachim, Steinhagen-Thiessen, Elisabeth   +8 more
core   +1 more source

Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency

JIMD Reports, 2020
Glycerol‐3‐phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the GPD1 gene (GPD1; OMIM*138420). Very few cases are reported in literature.
Lorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, Alberta Leon, Davide Colavito, Giovanni Battista Vigna, Giovanni Lanza, Aurelio Sonzogni, Giuseppe Maggiore   +8 more
doaj   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections. [PDF]

Prenat Diagn
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Gulrajani NB, Boscardin J, Lianoglou BR, Tick K, Santoli CMA, Miller KA, Jelin AC, Dugoff L, Giardine R, Feist C, Pilliod R, Dukhovny S, Gilmore K, Vora NL, Murphy A, Robinson PN, Norton ME, Sparks TN.   +17 more
europepmc   +2 more sources

Clinical manifestations of human brucellosis : a systematic review and meta-analysis [PDF]

, 2012
BACKGROUND: The objectives of this systematic review, commissioned by WHO, were to assess the frequency and severity of clinical manifestations of human brucellosis, in view of specifying a disability weight for a DALY calculation.
Crump, L., Dean, A. S., Greter, H., Hattendorf, J., Schelling, E., Zinsstag, J.   +5 more
core   +3 more sources

Radiografia quantitativa hepática de cães tranquilizados com acepromazina Hepatic quantitative radiography in dogs with acepromazine

Ciência Rural, 2011
O maleato de acepromazina é um dos tranquilizantes mais utilizados em medicina veterinária, podendo causar esplenomegalia, mas não é conhecida a possibilidade de ocorrência de hepatomegalia.
Bernardo Fernandes Lopes, Marilda Onghero Taffarel, Mariana Lorenção Feitosa, Lorena Adão Vescovi Séllos Costa, Eduardo Raposo Monteiro, Fabiano Séllos Costa   +5 more
doaj   +1 more source

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic

Journal of Contemporary Medicine, 2020
Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source