Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1-3 years. We present a patient diagnosed
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
The authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM:
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
OBJECTIVE
To explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports.
METHODS
Clinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
This study aims to analyze and evaluate the clinic and demographic features of immunocompetent children that have been diagnosed with cytomegalovirus (CMV) infection. The data of children diagnosed with CMV infection between January 2005 and December 2010 and their follow-ups for 2 years were
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Mutations in the X-linked E1α subunit of the pyruvate dehydrogenase complex (PHDC) are the most frequent causes of PDHC deficiency. The clinical picture is heterogeneous depending on residual enzyme activity and X-inactivation. We report on a girl who presented at an age of 3 weeks with muscular
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A 13 1/2-month-old boy with severe microcephaly was found to have nearly total absence of the telencephalon. The patient had marmorated skin, hypoplastic penis and undescended testes. Spastic tetraparesis was present. Moro, grasp and sucking reflexes were easily elicited. He could not sit or stand,
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
In the spring of 2017, a full-term infant with microcephaly was delivered in South Florida. During first trimester, the mother presented with fever, nausea, and vomiting. She reported no foreign travel for herself or her partner. The infant's neurologic, ophthalmologic, neuroradiologic, and
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
The detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following metronidazole administration. The first case was a
Die vollständigste Datenbank für Heilkräuter, die von der Wissenschaft unterstützt wird
Arbeitet in 55 Sprachen
Von der Wissenschaft unterstützte Kräuterkuren
Kräutererkennung durch Bild
Interaktive GPS-Karte - Kräuter vor Ort markieren (in Kürze)
Lesen Sie wissenschaftliche Veröffentlichungen zu Ihrer Suche
Suchen Sie nach Heilkräutern nach ihrer Wirkung
Organisieren Sie Ihre Interessen und bleiben Sie über Neuigkeiten, klinische Studien und Patente auf dem Laufenden
Geben Sie ein Symptom oder eine Krankheit ein und lesen Sie über Kräuter, die helfen könnten, geben Sie ein Kraut ein und sehen Sie Krankheiten und Symptome, gegen die es angewendet wird. * Alle Informationen basieren auf veröffentlichten wissenschaftlichen Forschungsergebnissen