Results 201 to 210 of about 4,798 (243)

CHRONIC-ONSET HEREDITARY TYROSINEMIA TYPE I

Pediatric Pathology & Molecular Medicine, 2001
A 6-month-old male infant presented to the pediatric gastroenterology elinic for maternal concerns of abdominal distention since birth. The abdom­ inal distention was not associated with vomiting or diarrhea and had not improved despite multiple formula changes. Past medical history was signifi­ cant for ,B-thalassemia.
John Pohl, Catherine Hughes, Michael Farrell   +2 more
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Serum Type III Procollagen in Children with Type I Hereditary Tyrosinemia

Journal of Pediatric Gastroenterology & Nutrition, 1999
ABSTRACTBackground:Type I hereditary tyrosinemia leads to hepatic dysfunction and fibrosis and is associated with a high risk of hepatic malignancy. Serum N‐terminal propeptide of type III procollagen is a sensitive marker of organ fibrosis of diverse origins.
S, Pitkänen, M K, Salo, K, Vettenranta, K, Näntö-Salonen, M, Heikinheimo   +4 more
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HEREDITARY TYROSINEMIA TYPE-I

Pediatric Research, 1992
Immunoblot analyses with bovine fumarylacetoacetase antibodies have been performed in fibroblast extracts from 28 patients with hereditary tyrosinemia of various clinical phenotypes, in one healthy individual homozygous for a "pseudodeficiency" gene for fumarylacetoacetase, and in three tyrosinemia families in which one or both parents are compound ...
KVITTINGEN, EA, ROOTWELT, H, VANDAM, T, BERGER, R   +3 more
openaire   +1 more source

Clinical case of tyrosinemia type I in the newborn

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022
Представлен случай тирозинемии 1 типа (НТ1) у новорожденного ребенка с описание клинической картины, иллюстрирующей сложности диагностики заболевания у новорожденного. Особое внимание уделено описанием неврологических проявлений и результатов инструментального обследования.
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[Juvenile form of tyrosinemia type I].

Klinische Padiatrie, 1990
A 1-3/12-year-old Turkish boy born of consanguineous parents was hospitalized in poor general condition with disorientation, hepatosplenomegaly, and rickets. Laboratory tests showed pronounced symptoms of hepatic dysfunction, rickets, and Fanconi's syndrome with acidosis. The diagnosis juvenile type I tyrosinemia was based on the anamnesis, hepatorenal
J, Nothjunge, W, Rosendahl
openaire   +1 more source

Tyrosinemia Type I in Japan: A Report of Five Cases

2017
Tyrosinemia type I in Japan was reported for the first time in 1957 by Sakai et al. (Jikei Med J 2:1-10, 1957) and Kitagawa et al. (Proc Jpn Acad Ser B 88:192-200, 1957). Five cases of patients with tyrosinemia type I were reported to be definitively diagnosed in Japan. The first case was reported by Sakai et al. and Kitagawa et al.
Kimitoshi, Nakamura, Michinori, Ito, Yosuke, Shigematsu, Fumio, Endo   +3 more
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[Late onset type I tyrosinemia].

Orvosi hetilap, 1997
The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She
V, Klujber, A, Sallai, R, Kálmánchey, L, Szönyi, E, Hosszú   +4 more
openaire   +1 more source

Nitisinone for the treatment of hereditary tyrosinemia type I

Expert Opinion on Orphan Drugs, 2013
Introduction: Nitisinone has transformed the management of hereditary tyrosinemia type 1 (HT1) and if combined with neonatal screening could abolish most of the clinical manifestations of the disease. Hereditary tyrosinemia type 1 is a rare genetic disease due to fumarylacetoacetase (FAH) deficiency, which usually presents with liver failure.
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Hereditary tyrosinemia type I--an overview.

Scandinavian journal of clinical and laboratory investigation. Supplementum, 1987
Hereditary tyrosinemia type I is a metabolic disorder of autosomal recessive inheritance. The disorder is characterized by progressive liver disease and renal tubular defects with accompanying hypophosphatemic rickets. It occurs in an acute and a chronic form. Hepatocellular carcinoma is frequently encountered in the chronic form of the disorder.
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Corneal Crystals in Patients With Tyrosinemia Types I and II

Cornea, 2023
María, Larrañaga Cores, Laura, Domínguez García, Nicolás, Estrada Vasquez, Claudia, Klein Burgos, Ana, Boto de Los Bueis, Almudena, Del Hierro Zarzuelo   +5 more
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