Results 171 to 180 of about 1,520,545 (236)

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.
Черкасова, С.В.
semanticscholar   +1 more source

Silent tyrosinemia type I with normal succinylacetone presenting as hepatocellular carcinoma in a paediatric patient

BMJ Case Reports
Hepatocellular carcinoma (HCC) has a low incidence in paediatric patients; Tyrosinemia type I (TYR1) is a known cause of HCC. Early detection through newborn screening is vital, yet not universally adopted.
Jean-Marco Verdi, Paola Carolina Espin, Michelle Bao, Swati Antala   +3 more
semanticscholar   +1 more source

Tyrosinemia Type I

2016
Tyrosinemia type 1 (HT-1) is a rare metabolic disorder affecting degradation pathways of the amino acid tyrosine. HT-1 presents with liver, kidney and/or bone disease and can cause acute porphyria attacks. Biochemical diagnosis is made by measuring raised plasma tyrosine and detection of succinylacetone in urine.
David Cassiman, Wouter Meersseman
openaire   +1 more source

Dental anomalies in a patient with Tyrosinemia type I: first case report in the literature

Journal of Oral Diagnosis
Objective: This clinical report describes a 13-year-old female with a complex medical history and multisystemic symptoms, including lower-extremity deformities, hypercalciuria, low body mass, short stature, abdominal pain, seizures, and hypertension ...
H. Martelli-Júnior, Hélen Kaline Farias Bezerra, Anna Luiza Braga Albuquerque, Rodrigo Rezende Arantes, Marcelo Augusto de Oliveira Sales, Felipe Paiva Fonseca, Renato Assis Machado, A. C. Simões e Silva   +7 more
semanticscholar   +1 more source

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

The Indian Journal of Pediatrics, 2006
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria.
Sunita, Bijarnia, Ratna D, Puri, Jean, Ruel, George F, Gray, Linda, Jenkinson, Ishwar C, Verma   +5 more
openaire   +2 more sources

Tyrosinemia type I: A clinico-laboratory case report

The Indian Journal of Pediatrics, 2004
Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib.
Deepali, Karnik, Niranjan, Thomas, C E, Eapen, A K, Jana, A, Oommen   +4 more
openaire   +2 more sources

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

Case 2: A 2-month-old Girl with Liver Failure and a Brother with Tyrosinemia Type I

Pediatrics in review, 2019
1. Galit Tal, MD* 2. Dalit E. Dar, PhD† 3. Shlomo Almashanu, PhD‡ 4. Stanley H. Korman, MBBS* 5. Elena Dumin, MD, PhD†,§ 1. *Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel 2.
Galit Tal, D. Dar, S. Almashanu, S. Korman, E. Dumin   +4 more
semanticscholar   +1 more source

Early Liver Transplantation Is Indicated for Tyrosinemia Type I

Journal of Pediatric Gastroenterology and Nutrition, 1991
SummaryLiver transplantation is now accepted as the treatment of choice for tyrosinemia type I (hereditary tyrosinemia). In an effort to determine whether any factors in these patients would aid in predicting optimal timing of the transplant procedure, we evaluated several clinical, biochemical, and radiographic parameters in five successive patients ...
D K, Freese, M, Tuchman, S J, Schwarzenberg, H L, Sharp, J M, Rank, J R, Bloomer, N L, Ascher, W D, Payne   +7 more
openaire   +2 more sources

[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