hepatolenticular degeneration/oksendamine

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Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.

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Logi sisse

A girl with a 2 month history of cyclic episodes of vomiting, diarrhea, and lethargy lasting 2-3 days each presented with acute hepatopathy (ALT 3,500 IU/L) with coagulopathy (PT 55 s) and hyperammonemia (207 μmol/L) at age 1½ years. Biochemical and molecular analyzes revealed ornithine

Copper storage disease with intravascular haemolysis in a Bedlington terrier.

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Logi sisse

A 5-year-old male Bedlington terrier was found to have haemoglobinuria from intravascular haemolysis. The owners reported also recent vomiting, occasional diarrhoea, reduced activity and increased drinking and urination. A diagnosis of inherited copper storage disease, as previously described in

Iatrogenic copper deficiency associated with long-term copper chelation for treatment of copper storage disease in a Bedlington Terrier.

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Logi sisse

A 9-year-old Bedlington Terrier was evaluated because of weight loss, inappetence, and hematemesis. Copper storage disease had been diagnosed previously on the basis of high hepatic copper concentration. Treatment had included dietary copper restriction and administration of trientine for chelation

Wilson Disease

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Logi sisse

Wilson disease or hepatolenticular degeneration is an autosomal recessive disease which results in an excess copper build up in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems too. Symptoms usually are related to the brain and

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

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Logi sisse

BACKGROUND Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological

A case of Trientine Overdose.

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Logi sisse

Wilson disease is a rare genetic hepatic and neurological disorder of copper accumulation. Trientine is usually used as a second line in the management of patients with this condition. We present a case of a large overdose of Trientine (60 g) resulting in self-limiting dizziness and vomiting with no

Copper associated acute hepatic failure in a dog.

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Logi sisse

A 1.5-year-old Dalmatian was examined because of vomiting, weight loss, and high serum activities of alanine aminotransferase and aspartate aminotransferase. Abdominal ultrasonography revealed normal appearing hepatic structure with echogenicity, but histologic examination of hepatic biopsy

[Treatment of chronic Wilson's disease in 2 patients using plasmapheresis--clinico-biochemical observations].

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Logi sisse

BACKGROUND The introduction of penicillamine in the treatment of Wilson's disease (hepatolenticular degeneration) was a historical event [1]. D-pericillamine (d-PAM) showed some potential side effects such as myasthenia, kidney toxicity, etc. In previous decade the treatment of Wilson's disease (WD)

Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease.

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Logi sisse

Acute liver failure and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific

Copper-associated chronic hepatitis in Labrador Retrievers.

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Logi sisse

This study summarizes the clinical and pathologic findings in 15 Labrador Retrievers with copper-associated chronic hepatitis (CACH). Our hypothesis was that this form of hepatitis is caused by a defect in hepatic copper metabolism, which most likely originates from a genetic defect. Affected

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