[HTML][HTML] Non-cirrhotic portal hypertension–diagnosis and management

R Khanna, SK Sarin - Journal of hepatology, 2014 - Elsevier
NCPH is a heterogeneous group of liver disorders of vascular origin, leading to PHT with
near normal HVPG. NCPF/IPH is a disorder of young adults or middle aged women …

Genotype–phenotype correlates in Joubert syndrome: A review

S Gana, V Serpieri, EM Valente - American Journal of Medical …, 2022 - Wiley Online Library
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

[PDF][PDF] Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American …

RH Squires, V Ng, R Romero, U Ekong… - …, 2014 - Wiley Online Library
Each Association appointed at least one author to serve on the writing group. The Chair of
the writing group was appointed by the AASLD. Members of the writing group were not …

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference

LM Guay-Woodford, JJ Bissler, MC Braun… - The Journal of …, 2014 - jpeds.com
MIM 263200) is a severe, typically early-onset form of cystic disease that primarily involves
the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite …

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects

EA Hartung, LM Guay-Woodford - Pediatrics, 2014 - publications.aap.org
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of chronic
kidney disease in children. The care of ARPKD patients has traditionally been the realm of …

Healthcare recommendations for Joubert syndrome

R Bachmann‐Gagescu, JC Dempsey… - American journal of …, 2020 - Wiley Online Library
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Perinatal diagnosis, management, and follow-up of cystic renal diseases: a clinical practice recommendation with systematic literature reviews

C Gimpel, FE Avni, C Bergmann, M Cetiner… - JAMA …, 2018 - jamanetwork.com
Importance Prenatal and neonatal cystic kidney diseases are a group of rare disorders
manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of …

Non-cirrhotic portal hypertension

SK Sarin, R Khanna - Clinics in liver disease, 2014 - liver.theclinics.com
Non-cirrhotic portal hypertension (NCPH) encompasses a wide range of vascular conditions
leading to portal hypertension (PHT) associated with normal or mildly elevated hepatic …

[HTML][HTML] Drug induced liver injury: review with a focus on genetic factors, tissue diagnosis, and treatment options

T Khoury, AA Rmeileh, L Yosha… - Journal of clinical and …, 2015 - ncbi.nlm.nih.gov
Drug-induced liver injury (DILI) is a rare but potentially life threatening adverse drug
reaction. DILI may mimic any morphologic characteristic of acute or chronic liver disease …

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

R Büscher, AK Büscher, S Weber, J Mohr, B Hegen… - Pediatric …, 2014 - Springer
Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the
dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in …