✦ LIBER ✦

Is there a relationship between inborn errors of metabolism and extensive mongolian spots?

✍ Scribed by Mendez, Heirie Miriam Marques ;Pinto, Laís Izabel Borges ;Paskulin, Giorgio Adriano ;Ricachnevsky, NÉLson

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 233 KB
Volume: 47
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320470403

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Is there a relationship between extensiv

Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

✍ Silengo, Margherita; Battistoni, Giulia; Spada, Marco 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

Mendez et al. reported in this journal a case of MPS 1 (Hurler disease) with extensive mongolian spots.They reviewed the other patients with extensive mongolian spots and inborn error of metabolism, namely MPS 1 [

Evidence based medicine in inborn errors

Evidence based medicine in inborn errors of metabolism: Is there any and how to find it

✍ Robert D. Steiner 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 134 KB

Maternal polymorphisms 677C-T and 1298A-

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

✍ María-Luisa Martínez-Frías; Belén Pérez; Lourdes R. Desviat; Margarita Castro; F 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 1 views