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Clinical and biochemical aspects of primary and secondary hyperammonemic disorders

Archives of biochemistry and biophysics, 2013-08, Vol.536 (2), p.101-108

Häberle, Johannes

2013

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Suitability of nitisinone for alkaptonuria

The lancet. Diabetes & endocrinology, 2020-09, Vol.8 (9), p.732-733

Häberle, Johannes

2020

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Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

Nature medicine, 2018-10, Vol.24 (10), p.1519-1525

2018

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

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1192-1230

2019

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Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition

Journal of inherited metabolic disease, 2024-03

2024

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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (42), p.21150-21159

2019

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Suggested guidelines for the diagnosis and management of urea cycle disorders

Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.32-32

2012

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Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.219-219, Article 219

2018

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Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

Human mutation, 2017-05, Vol.38 (5), p.471-484

2017

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Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

Expert opinion on therapeutic targets, 2017-04, Vol.21 (4), p.391-399

2017

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Response to Baertling et al

Genetics in medicine, 2020-03, Vol.22 (3), p.656-656

2020

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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

PloS one, 2016-04, Vol.11 (4), p.e0153358-e0153358

2016

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Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia

Proceedings of the National Academy of Sciences - PNAS, 2018-01, Vol.115 (2), p.391-396

2018

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Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.431-444

2022

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

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.826-837

2021

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Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1147-1161

2019

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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.3-3, Article 3

2024

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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Human mutation, 2009-03, Vol.30 (3), p.300-307

2009

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Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Human mutation, 2018-08, Vol.39 (8), p.1029-1050

2018

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Therapeutische Optionen bei angeborenen Stoffwechselstörungen

Monatsschrift Kinderheilkunde, 2020-09, Vol.168 (9), p.795-803

Häberle, Johannes

2020

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Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

International journal of molecular sciences, 2022-11, Vol.23 (23), p.14940

2022

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Preclinical evaluation of liposome-supported peritoneal dialysis for the treatment of hyperammonemic crises

Journal of controlled release, 2020-12, Vol.328, p.503-513

2020

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Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Hepatology (Baltimore, Md.), 2022-09, Vol.76 (3), p.646-659

2022

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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.174-174, Article 174

2018

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Clinical and biochemical aspects of primary and secondary hyperammonemic disorders

Suitability of nitisinone for alkaptonuria

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

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

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Suggested guidelines for the diagnosis and management of urea cycle disorders

In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

Response to Baertling et al

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

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

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Therapeutische Optionen bei angeborenen Stoffwechselstörungen

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

Preclinical evaluation of liposome-supported peritoneal dialysis for the treatment of hyperammonemic crises

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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