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Acta Pædiatrica, ISSN 0803-5253, 12/2005, Volume 94, Issue 12, pp. 1849 - 1851
Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been... 
urea cycle disorder | Infantile | cirrhosis
Journal Article
Acta Paediatrica, ISSN 0803-5253, 12/2005, Volume 94, Issue 12, pp. 1849 - 1851
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 09/2003, Volume 20, Issue 5, pp. 432 - 435
: A 3‐year‐old girl had severe intractable diarrhea with trichorrhexis nodosa and cirrhosis. This patient was referred to the pediatric dermatology clinic for... 
PEDIATRICS | HAIR SHAFTS | DERMATOLOGY | Diagnosis, Differential | Liver Cirrhosis - diagnosis | Hair - abnormalities | Liver Cirrhosis - complications | Parenteral Nutrition, Total | Face - abnormalities | Humans | Child, Preschool | Diarrhea, Infantile - complications | Diarrhea, Infantile - therapy | Child | Diarrhea, Infantile - diagnosis | Infant, Newborn
Journal Article
Frontiers in Microbiology, ISSN 1664-302X, 11/2018, Volume 9, p. 2682
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2007, Volume 44, Issue 11, pp. 673 - 688
The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of... 
OCCIPITAL-HORN-SYNDROME | ATP7A GENE | TYROLEAN INFANTILE CIRRHOSIS | P-TYPE ATPASE | HAMSTER OVARY CELLS | GENETICS & HEREDITY | N-TERMINAL DOMAIN | COPPER-TRANSPORTING ATPASE | PROTEIN-PROTEIN INTERACTIONS | METAL-BINDING SITES | TOXICOSIS GENE MURR1 | Copper-transporting ATPases | Humans | Cation Transport Proteins - physiology | Male | Structure-Activity Relationship | Mutation, Missense | Rats, Inbred LEC | Mice, Mutant Strains | Adenosine Triphosphate - metabolism | Copper - metabolism | Cation Transport Proteins - genetics | Female | Disease Models, Animal | Protein Structure, Tertiary | Menkes Kinky Hair Syndrome - metabolism | Rats | Genotype | Menkes Kinky Hair Syndrome - genetics | Zebrafish | Protein Interaction Mapping | Phenotype | Animals | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Hepatolenticular Degeneration - genetics | Mice | Cation Transport Proteins - chemistry | Adenosine Triphosphatases - physiology | Hepatolenticular Degeneration - metabolism | Complications and side effects | Copper in the body | Chromosome abnormalities | Adenosine triphosphatase genes | Physiological aspects | Development and progression | Menkes syndrome | Genetic aspects | Research | Wilson's disease | Pathology, Molecular | Health aspects | Proteins | Enzymes | Disease | Laboratories | Rodents | Mutation | Respiration | Defects | copper | ATP7B | Review | Wilson disease | ATP7A | Menkes disease
Journal Article
FRONTIERS IN CELLULAR NEUROSCIENCE, ISSN 1662-5102, 05/2014, Volume 8
Ion channels are crucial components of cellular excitability and are involved in many neurological diseases. This review focuses on the sodium leak, G... 
VOLATILE GENERAL-ANESTHETICS | 13Q DELETION SYNDROME | NALCN | UNC-80 | INFANTILE NEUROAXONAL DYSTROPHY | NEUROSCIENCES | UNC-79 | excitability | CAENORHABDITIS-ELEGANS | RESTLESS LEGS SYNDROME | ion channel | ONSET ALZHEIMERS-DISEASE | PRIMARY BILIARY-CIRRHOSIS | DANDY-WALKER MALFORMATION | GATED ION CHANNELS | GENOME-WIDE ASSOCIATION
Journal Article