Current status and future directions of liver transplantation for metabolic liver disease in children

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria

(2023) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

(2022) Vikram K. Raghu et al.   Molecular Genetics and Metabolism Reports

Mitochondrial Hepatopathy

(2022) Mary Ayers et al.   Clinics in Liver Disease

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

(2022) Miriam Massese et al.   Orphanet Journal of Rare Diseases

Cellular Therapies in Pediatric Liver Diseases

(2022) Sunitha Vimalesvaran et al.   Cells

Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis

(2022) Luca Dello Strologo et al.   MOLECULAR GENETICS AND METABOLISM

Prognosis of Children Undergoing Liver Transplantation: A 30-Year European Study

(2022) Ulrich Baumann et al.   PEDIATRICS

First Drug Approved for Rare Genetic Disorder Affecting Kidneys

(2021) Mary Chris Jaklevic   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

(2021) Patrick Forny et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver Transplantation for Glycogen Storage Disease Type IV

(2021) Min Liu et al.   Frontiers in Pediatrics

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

(2021) Jun Kido et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

(2021) Sander F. Garrelfs et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

(2021) Giorgia Olivieri et al.   Orphanet Journal of Rare Diseases

Transplantation outcomes in patients with primary hyperoxaluria: a systematic review

(2021) Elisabeth L. Metry et al.   PEDIATRIC NEPHROLOGY

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time

(2021) Ioannis A. Ziogas et al.   LIVER TRANSPLANTATION

Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children

(2021) Hajime Uchida et al.   PEDIATRIC TRANSPLANTATION

Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children

(2021) David J. Sas et al.   GENETICS IN MEDICINE

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study

(2021) Yi-Chia Chan et al.   Orphanet Journal of Rare Diseases

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

(2020) Matthias Zielonka et al.   HUMAN MUTATION

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

(2020) Sufin Yap et al.   ADVANCES IN THERAPY

Acute liver failure due to DGUOK deficiency–is liver transplantation justified?

(2020) Irena Jankowska et al.   Clinics and Research in Hepatology and Gastroenterology

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Position Paper on Diagnosis, Prognosis and Treatment by the MNGIE International Network

(2020) Michio Hirano et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Paediatric liver transplantation in Australia and New Zealand: 1985‐2018

(2020) Michael O Stormon et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

(2020) Masaru Shimura et al.   Orphanet Journal of Rare Diseases

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism. An overview on European data

(2020) Femke Molema et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long‐term outcome after liver transplantation in children with type 1 glycogen storage disease

(2020) Wing Yan Yuen et al.   PEDIATRIC TRANSPLANTATION

Liver Transplantation for Propionic Acidemia

(2020) Guang-Peng Zhou et al.   TRANSPLANTATION

Successful liver transplantation in hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome: Case report

(2020) Pauline De Bruyne et al.   PEDIATRIC TRANSPLANTATION

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2019) Priya S. Kishnani et al.   GENETICS IN MEDICINE

Evolving trends in liver transplant for metabolic liver disease in the United States

(2019) Patrick J McKiernan et al.   LIVER TRANSPLANTATION

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

(2019) Corinna Buerger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

(2019) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

(2019) Roland Posset et al.   ANNALS OF NEUROLOGY

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

(2019) Johannes Häberle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2

(2019) Yoshiyuki Okano et al.   MOLECULAR GENETICS AND METABOLISM

Disease burden of Crigler–Najjar syndrome: systematic review and future perspectives

(2019) Anil Dhawan et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation

(2019) Neslihan Celik et al.   CLINICAL TRANSPLANTATION

Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b

(2019) Seiichi Shimizu et al.   LIVER TRANSPLANTATION

When Considering Liver Transplant for Children with Glycogen Storage Disease 1b

(2019) James E Squires   LIVER TRANSPLANTATION

Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision‐making in rare disease

(2019) Maya T. Gerstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

(2018) Jun Kido et al.   METABOLIC BRAIN DISEASE

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

(2018) Kristen Critelli et al.   LIVER TRANSPLANTATION

Host conditioning and rejection monitoring in hepatocyte transplantation in humans

(2017) Kyle A. Soltys et al.   JOURNAL OF HEPATOLOGY

Human hepatocyte transplantation for liver disease: current status and future perspectives

(2017) V Iansante et al.   PEDIATRIC RESEARCH

Revisiting APOLT for Metabolic Liver Disease

(2017) Mettu Srinivas Reddy et al.   TRANSPLANTATION

Liver Transplantation for Mitochondrial Respiratory Chain Disorder: A Single-Center Experience and Excellent Marker of Differential Diagnosis

(2017) K. Sasaki et al.   TRANSPLANTATION PROCEEDINGS

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

(2017) Ding An et al.   Cell Reports

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

(2016) Roberto De Giorgio et al.   ANNALS OF NEUROLOGY

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

(2016) Patrick McKiernan et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

(2016) Roberto D’Angelo et al.   NEUROLOGICAL SCIENCES

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

(2015) F. Charbit-Henrion et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias

(2015) Meng Li et al.   LIVER TRANSPLANTATION

Surgical gene therapy by domino auxiliary liver transplantation

(2015) Lorenzo D'Antiga et al.   LIVER TRANSPLANTATION

A metabolic chimera: Two defective genotypes make a normal phenotype

(2015) Sanjay Govil et al.   LIVER TRANSPLANTATION

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

(2015) Diego Martinelli et al.   Orphanet Journal of Rare Diseases

Pediatric Liver Transplant Center Volume and the Likelihood of Transplantation

(2015) A. Rana et al.   PEDIATRICS

Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia

(2015) M. Spada et al.   PEDIATRICS

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

(2014) Priya S. Kishnani et al.   GENETICS IN MEDICINE

Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function

(2014) David C. Bartlett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver Transplantation for Classical Maple Syrup Urine Disease

(2014) Victoria M. Díaz et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Evaluation of the Pediatric Patient for Liver Transplantation

(2014) Robert H. Squires et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature

(2014) Enke Grabhorn et al.   LIVER TRANSPLANTATION

A longitudinal study of urea cycle disorders

(2014) Mark L. Batshaw et al.   MOLECULAR GENETICS AND METABOLISM

Liver transplantation for pediatric metabolic disease

(2014) George Mazariegos et al.   MOLECULAR GENETICS AND METABOLISM

Liver transplantation in glycogen storage disease type I

(2014) Susanna JB Boers et al.   Orphanet Journal of Rare Diseases

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

(2014) Sebene Mayorandan et al.   Orphanet Journal of Rare Diseases

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Mitochondrial Hepatopathies: Advances in Genetics, Therapeutic Approaches, and Outcomes

(2013) Way Seah Lee et al.   JOURNAL OF PEDIATRICS

Primary Hyperoxaluria

(2013) Pierre Cochat et al.   NEW ENGLAND JOURNAL OF MEDICINE

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

(2013) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Clinical Outcome of Hepatocyte Transplantation in Four Pediatric Patients with Inherited Metabolic Diseases

(2012) Carmen Ribes-Koninckx et al.   CELL TRANSPLANTATION

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

(2012) David C. Bartlett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ

(2012) Nicholas Ah Mew et al.   JOURNAL OF PEDIATRICS

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

(2012) Jean Larochelle et al.   MOLECULAR GENETICS AND METABOLISM

Domino Liver Transplantation in Maple Syrup Urine Disease: A Case Report and Review of the Literature

(2012) I.R. Badell et al.   TRANSPLANTATION PROCEEDINGS

Improving the Techniques for Human Hepatocyte Transplantation: Report from a Consensus Meeting in London

(2011) Juliana Puppi et al.   CELL TRANSPLANTATION

Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature

(2011) Anurag Maheshwari et al.   CLINICAL TRANSPLANTATION

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

(2011) George V. Mazariegos et al.   JOURNAL OF PEDIATRICS

ABO-incompatible pediatric liver transplantation in very small recipients: Birmingham’s experience

(2011) Thomas Gelas et al.   PEDIATRIC TRANSPLANTATION

Preemptive Liver–Kidney Transplantation in Von Gierke Disease: A Case Report

(2011) A. Marega et al.   TRANSPLANTATION PROCEEDINGS

Living Related Donor Liver Transplantation in Children

(2011) A.C.A. Tannuri et al.   TRANSPLANTATION PROCEEDINGS

Glycogen Storage Disease Type Ia and VI Associated With Hepatocellular Carcinoma: Two Case Reports

(2011) T.M. Manzia et al.   TRANSPLANTATION PROCEEDINGS

Glycogen Storage Disease Type III diagnosis and management guidelines

(2010) Priya S Kishnani et al.   GENETICS IN MEDICINE

Barriers to the successful treatment of liver disease by hepatocyte transplantation

(2010) Kyle A. Soltys et al.   JOURNAL OF HEPATOLOGY

Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study

(2010) Philippe M. Campeau et al.   MOLECULAR GENETICS AND METABOLISM

Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration

(2010) M. T. P. Perera et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1

(2010) Mónica Galanti et al.   PEDIATRIC NEPHROLOGY

Liver transplantation in children with metabolic diseases: The studies of pediatric liver transplantation experience

(2010) Ronen Arnon et al.   PEDIATRIC TRANSPLANTATION

Living Related Liver Transplant in a Patient With Argininosuccinic Aciduria and Cirrhosis: Metabolic Follow-up

(2009) Michael Marble et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

(2009) Stéphane Romano et al.   JOURNAL OF PEDIATRICS

Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor

(2009) Takanobu Shigeta et al.   PEDIATRIC TRANSPLANTATION

Renal Function Recovery in Children Undergoing Combined Liver Kidney Transplants

(2009) M Thamara P.R. Perera et al.   TRANSPLANTATION

Pediatric Liver Transplantation for Metabolic Liver Disease: Experience at King’s College Hospital

(2009) Yuk K. Sze et al.   TRANSPLANTATION

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Cell-mediated rejection results in allograft loss after liver cell transplantation

(2008) Katrina J. Allen et al.   LIVER TRANSPLANTATION

Outcomes of 5-Year Survivors of Pediatric Liver Transplantation: Report on 461 Children From a North American Multicenter Registry

(2008) V. L. Ng et al.   PEDIATRICS