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BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 2011, Volume 1811, Issue 9, pp. 498 - 507
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 191 - 192
Journal Article
Human Mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1569 - 1578
Charcot‐Marie‐Tooth disease type 4D (CMT4D) is an autosomal‐recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy.... 
Charcot‐Marie‐Tooth | targeted next‐generation sequencing | NDRG1 | novel mutation | functional characterization | Charcot-Marie-Tooth | targeted next-generation sequencing | CMT4D | HEREDITARY MOTOR | NEUROPATHY | GENE | SH3TC2 | GENETICS & HEREDITY | EXPRESSION | ONSET | Gene Duplication | Refsum Disease - metabolism | Sequence Deletion | Humans | Refsum Disease - genetics | Male | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense | Charcot-Marie-Tooth Disease - genetics | Gene Knockdown Techniques | Young Adult | Cell Cycle Proteins - genetics | Adult | Female | Charcot-Marie-Tooth Disease - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Receptors, LDL - genetics | rab4 GTP-Binding Proteins - metabolism | Genetic Association Studies | Cell Cycle Proteins - metabolism | Receptors, LDL - metabolism | Genotype | Sequence Analysis, DNA | Refsum Disease - diagnosis | Phenotype | Adolescent | Alleles | Protein Binding | High-Throughput Nucleotide Sequencing | Charcot-Marie-Tooth Disease - diagnosis | Amino Acid Substitution | Genetic aspects | Low density lipoproteins | Analysis | Glutamine | Lipoproteins (low density) | Cell culture | Exons | Confocal microscopy | Neuropathy | Cell surface | Proteins | Missense mutation | Transfection | Demyelination | Charcot-Marie-Tooth disease | Receptor density | Mutation | Protein transport
Journal Article
Journal Article
Kidney International, ISSN 0085-2538, 04/2008, Volume 73, Issue 8, pp. 971 - 976
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2011, Volume 42, Issue 3, pp. 368 - 380
Journal Article
Annals of Otology, Rhinology and Laryngology, ISSN 0003-4894, 2014, Volume 123, Issue 6, pp. 425 - 427
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 491 - 495
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | WOLCOTT-RALLISON SYNDROME | PHENOTYPE | PANCREAS | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | FAILURE | CHILDHOOD | DEFICIENCY | VALPROATE EXPOSURE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | KIDNEY | Mitochondrial Encephalomyopathies - surgery | Purpura - genetics | Diabetes Mellitus, Type 1 - surgery | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Liver Transplantation - trends | Brain Diseases, Metabolic, Inborn - surgery | Purpura - surgery | Epiphyses - abnormalities | Amino Acid Metabolism, Inborn Errors - surgery | Osteochondrodysplasias - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Intestinal Pseudo-Obstruction - surgery | Brain Diseases, Metabolic, Inborn - genetics | Neoplasm Proteins - genetics | Enzyme Replacement Therapy | Metabolic Diseases - surgery | Osteochondrodysplasias - surgery | Refsum Disease, Infantile - genetics | Mitochondrial Encephalomyopathies - genetics | Diabetes Mellitus, Type 1 - genetics | Epiphyses - surgery | Liver Neoplasms - surgery | Intestinal Pseudo-Obstruction - genetics | Refsum Disease, Infantile - surgery | Animals | Liver Failure, Acute - surgery | Liver | Transplantation | Liver diseases | Reviews | Syngeneic grafts | Metabolic disorders | Liver transplantation
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 161 - 165
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2008, Volume 105, Issue 46, pp. 17712 - 17717
Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal a-oxidation system, resulting in the... 
Cerebellum | Peroxisomes | Diet | Gait | Purkinje cells | Alleles | Central nervous system | Mice | Fatty acids | Refsum disease | Fatty acid oxidation | Metabolic disorder | PPAR-ALPHA | RAT | MULTIDISCIPLINARY SCIENCES | PRISTANIC ACID | ACTIVATED RECEPTOR-ALPHA | ASTROCYTES | GAS-CHROMATOGRAPHY | METABOLISM | CHAIN FATTY-ACIDS | metabolic disorder | peroxisomes | MICE | fatty acid oxidation | PHYTANIC ACID | Mixed Function Oxygenases - deficiency | Central Nervous System - abnormalities | Central Nervous System - pathology | Lipidoses - pathology | Male | Purkinje Cells - enzymology | Refsum Disease - enzymology | Behavior, Animal - drug effects | Peripheral Nervous System Diseases - pathology | Purkinje Cells - drug effects | Spermatogonia - pathology | Ataxia - pathology | Disease Models, Animal | Spermatogonia - drug effects | Ataxia - physiopathology | Gene Targeting | Automation | Refsum Disease - pathology | Peripheral Nervous System Diseases - enzymology | Lipidoses - enzymology | Gait - drug effects | Phenotype | Phytol - pharmacology | Animals | Ataxia - enzymology | Refsum Disease - physiopathology | Central Nervous System - drug effects | Spermatogonia - enzymology | Genetic Vectors | Mixed Function Oxygenases - genetics | Phytol - administration & dosage | Dietary Supplements | Purkinje Cells - pathology | Central Nervous System - enzymology | Phytanic Acid - blood | Ataxia | Models | Biological oxidation (Metabolism) | Research | Properties | Health aspects | Biological Sciences
Journal Article