Results 61 to 70 of about 5,107 (173)

Early diagnosis of classic galactosemia in the first week of life: A case series and implications for national newborn screening policy

Medicine Science
Classic galactosemia is an autosomal recessive metabolic disorder with an estimated incidence of 1 in 24,000 in countries where consanguinity is common.
Mahli Batuhan Ozdogar, Dilem Eris, Muzaffer Coskun, Ozgur Olukman   +3 more
doaj   +1 more source

Case of galactosemia in a newborn child

Медицинский вестник Юга России, 2018
Clinical observation of galactosemia in a newborn child is presented. A special feature of this case is the complicated course of the disease against the background of intracranial hemorrhages of nontraumatic genesis, alimentary hepatotrophy of a severe ...
L. V. Kravchenko, O. V. Avilova, R. A. Shokarev   +2 more
doaj   +1 more source

An unusual presentation of galactosemia: Hemophagocytic lymphohistiocytosis

Turkish Journal of Hematology, 2012
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis.
Ahmet Afşin Kundak, Ayşegül Zenciroğlu, Neşe Yaralı, Belma Saygılı Karagöl, Arzu Dursun, Selim Gökçe, Nilgün Karadağ, Nurullah Okumuş   +7 more
doaj   +1 more source

Galactosemia [PDF]

Diabetes, 1956
C S, ANAST, R L, JACKSON
openaire   +2 more sources

Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients

JIMD Reports
Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose‐restricted diet, patients develop long‐term complications including cognitive impairment.
Merel E. Hermans, Gert J. Geurtsen, Carla E. M. Hollak, Annet M. Bosch   +3 more
doaj   +1 more source

Natural history of three late-diagnosed classic Galactosemia patients

Molecular Genetics and Metabolism Reports
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and
Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo   +11 more
doaj   +1 more source

Crystals hold the clue

Medical Journal of Dr. D.Y. Patil University, 2017
A 21-day-old male infant, born as the first child to a nonconsanguineous couple, presented with nonspecific symptoms, signs, and superimposed infection. Investigations conducted were not conclusive to arrive at a diagnosis.
Asha K Varghese, T S Shibu, M Pushpalatha   +2 more
doaj   +1 more source

Galactosemia

Anales de Pediatría, 2011
J, Díaz Ruiz, A, Cordón Martínez, J, López López, A, Jurado Ortiz   +3 more
openaire   +3 more sources

Galactosemia

Medicina, 1985
<p>La Galactosemia, cuyo número de codificación internacional es 271.2, se define como un error del metabolismo de la galactosa, de carácter congénito y es un ejemplo de eugenesia (1), puesto que por medios externos como una dieta, se puede alterar
Alberto Hernández Saenz
doaj  

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report

BMC Infectious Diseases
Background Phytobacter diazotrophicus (P. diazotrophicus) is an opportunistic pathogen that causes nosocomial outbreaks and sepsis. However, there are no reports of P. diazotrophicus isolated from human blood in China.
Jiansheng Lin, Junfeng Wu, Lan Gong, Xiaoqing Li, Gaoxiong Wang   +4 more
doaj   +1 more source