Results 131 to 140 of about 174,613,300 (296)

Urine diagnostics in paediatric intestinal failure: A prospective cohort study of alternative sampling methods

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Regular monitoring of urinary electrolyte excretion and kidney function is essential in children with intestinal failure (IF) receiving long‐term parenteral nutrition (PN). This study evaluated alternative urine sampling methods against 24‐h urine collection (UC) and assessed the prevalence of chronic kidney disease (CKD) and renal ...
Anna Sakaeva, Andreas Busch, Johannes Holle, Hendrik Bartolomaeus, Bernd Fode, Ilias Tsiflikas, Ekkehard Sturm, Christoph Slavetinsky, Simon Scherer, Jörg Fuchs, Justus Lieber, Steven W. Warmann, Johannes Hilberath   +12 more
wiley   +1 more source

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent

JPGN Reports, EarlyView.
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P. Molleston, Chaowapong Jarasvaraparn   +4 more
wiley   +1 more source

Newborn screening for inborn errors of metabolism: a systematic review.

, 1997
: OBJECTIVES. To establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism.
Thomason, Littlejohns, Lord, Addison, Cockburn, Chalmers, Bain, Seymour, Wilcox   +8 more
core   +1 more source

Disseminated histoplasmosis mimicking autoimmune hepatitis as a trigger of secondary hemophagocytic lymphohistiocytosis in a pediatric patient

JPGN Reports, EarlyView.
Abstract Patients presenting with hemophagocytic lymphohistiocytosis (HLH) are often critically ill, and rapid identification of both HLH and underlying triggers in secondary HLH is essential for successful treatment. We present a case of secondary HLH activated by disseminated histoplasmosis (DH) that mimicked autoimmune hepatitis (AIH) on liver ...
Thomas Ratchford, Talal Al Hendawi, Eumenia Castro, Pelin Cengiz, James Conway, Shelly Cook, Leanne Mansfield, Nicholas Pytel, Christine M. Seroogy, Katelyn Watkin, Jo Wilson, Jonathan Wong, Therese Woodring, Katryn N. Furuya   +13 more
wiley   +1 more source

Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [PDF]

J Inherit Metab Dis, 2020
Clayton PT.
europepmc   +1 more source

Vitamin D levels and bone mineral density in inborn errors of metabolism requiring specialised diets

, 2019
Objective: To evaluate vitamin D levels and bone mineral density in patients with dietary limitations due to inborn errors of metabolism (IEM) and its correlation with ...
Turner, LEYLA, Olgac, A., İNCİ, ASLI, Inci, A., Ezgu, FATİH SÜHEYL, Tumer, L., Olgac, Asburce, Okur, I., BİBEROĞLU, GÜRSEL, Biberoglu, G., Ezgu, F., OKUR, İLYAS   +11 more
core   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism. [PDF]

Cureus, 2020
Khan A, Zahid B, Khan S, Ahmad SA.
europepmc   +1 more source

A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity [PDF]

JPGN Rep
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16‐year‐old male with severe obesity, and persistently elevated liver enzymes ...
Trocchia C, Herdes R, Gedallovich J, Narang A.   +3 more
europepmc   +2 more sources

Paediatric Melanonychia: Diagnosis and Management

JEADV Clinical Practice, EarlyView.
ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang, Erika Koh, Je‐Ho Mun, Dong‐Youn Lee, Matilde Iorizzo, Adam I. Rubin   +5 more
wiley   +1 more source