4.2 Article

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in humanPSAT1

Amy Sirr et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Medicine, General & Internal

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L. Gantner et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Endocrinology & Metabolism

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

Kevin E. Glinton et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Article Medicine, Research & Experimental

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

Mari Auranen et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2017)

Article Clinical Neurology

Two new cases of serine deficiency disorders treated with L-serine

A. Brassier et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)

Article Endocrinology & Metabolism

On the phenotypic spectrum of serine biosynthesis defects

Ayman W. El-Hattab et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2016)

Article Endocrinology & Metabolism

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

William A. Gahl et al.

MOLECULAR GENETICS AND METABOLISM (2016)

Review Endocrinology & Metabolism

Serine biosynthesis and transport defects

Ayman W. El-Hattab

MOLECULAR GENETICS AND METABOLISM (2016)

Editorial Material Clinical Neurology

Sjogren-Larsson Syndrome: A Neuro-Ichthyotic Disorder With Unique Magnetic Resonance Features

Salman Rashid et al.

PEDIATRIC NEUROLOGY (2016)

Article Endocrinology & Metabolism

Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

Heather M. Byers et al.

JIMD REPORTS, VOL 30 (2016)

Article Endocrinology & Metabolism

An update on serine deficiency disorders

S. N. van der Crabben et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2013)

Article Clinical Neurology

A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth-Like Polyneuropathy

Aurelie Meneret et al.

ARCHIVES OF NEUROLOGY (2012)

Article Genetics & Heredity

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl et al.

GENETICS IN MEDICINE (2012)

Editorial Material Medicine, General & Internal

The NIH Undiagnosed Diseases Program Lessons Learned

William A. Gahl et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)

Article Biochemistry & Molecular Biology

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Review Endocrinology & Metabolism

L-Serine synthesis in the central nervous system: A review on serine deficiency disorders

L. Tabatabaie et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Medicine, General & Internal

Primary Ovarian Insufficiency

Lawrence M. Nelson

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Genetics & Heredity

Phosphoserine aminotransferase deficiency: A novel disorder of the serine biosynthesis pathway

Claire E. Hart et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Medicine, General & Internal

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

TJ de Koning et al.

LANCET (2004)

Review Clinical Neurology

Clinical assessment of complex visual dysfunction

M Rizzo

SEMINARS IN NEUROLOGY (2000)