Results 131 to 140 of about 6,468 (222)

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]

Kidney Med
Yoshida R, Hosokawa M, Ukawa T, Tsurisawa C, Hisaeda Y, Amagata S, Takeda T, Nakao A.   +7 more
europepmc   +1 more source

[Tyrosinemia].

Revista chilena de pediatria, 1981
E, Saelzer, C, Norero, T, Young
openaire   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source

Orthotopic liver transplantation [PDF]

, 1980
Starzl, TE
core  

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines. [PDF]

J Inherit Metab Dis
Kuypers AM, Das AM, Maiorana A, Heiner-Fokkema MR, van Spronsen FJ, TT1 MetabERN Professional Collaboration Group.   +5 more
europepmc   +1 more source

Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids. [PDF]

Int J Mol Sci
Petkova D, Stoyanova S, Dinkov G, Bogdanov MG.   +3 more
europepmc   +1 more source

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation. [PDF]

Int J Neonatal Screen
Zakharova EY, Baydakova GV, Baranova PV, Aleksandrova DY, Shchagina OA, Itkis YS, Milovanova NV, Nagornova TS, Ivanova ON, Nazarenko YD, Voronin SV, Chukhrova AL, Kadnikova VA, Lotnik EE, Ryadninskaya NV, Polyakov AV, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Nikolaeva EB, Kutsev SI.   +25 more
europepmc   +1 more source

Transplantation and other aspects of surgery of the liver [PDF]

, 1984
Iwatsuki, S, Shaw, BW, Starzl, TE, Van Thiel, DH   +3 more
core  

Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry? [PDF]

Metabolites
Kadıoğlu Yılmaz B, Sivrikaya A, Ünlü A.   +2 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source